diff --git a/.github/workflows/pythonpackage.yml b/.github/workflows/pythonpackage.yml index be24660..c7a87fa 100644 --- a/.github/workflows/pythonpackage.yml +++ b/.github/workflows/pythonpackage.yml @@ -21,12 +21,8 @@ jobs: run: | python -m pip install --upgrade pip pip install pipenv - pipenv install --dev - - name: Lint with flake8 - run: | - pip install flake8 - # stop the build if there are Python syntax errors or undefined names - flake8 . --count --select=E9,F63,F7,F82 --show-source --statistics + python setup.py develop + - name: Test with unittest run: | diff --git a/.gitignore b/.gitignore index 587f4ae..9bc5e90 100644 --- a/.gitignore +++ b/.gitignore @@ -49,6 +49,12 @@ coverage.xml .hypothesis/ .pytest_cache/ +# Models +*.model +*.npy +*.npz +*.pkl + # Translations *.mo *.pot diff --git a/MANIFEST.in b/MANIFEST.in new file mode 100644 index 0000000..b3abbec --- /dev/null +++ b/MANIFEST.in @@ -0,0 +1 @@ +include txt2hpo/data/*.wv.gz \ No newline at end of file diff --git a/Pipfile b/Pipfile index f73b407..498d3e5 100644 --- a/Pipfile +++ b/Pipfile @@ -11,8 +11,11 @@ pytest-cov = "*" [packages] nltk = "*" spacy = "*" +scispacy = "*" +negspacy = "*" phenopy = "*" networkx = "*" +gensim = "*" [requires] python_version = "3.7" diff --git a/Pipfile.lock b/Pipfile.lock index 666c40c..2c5545f 100644 --- a/Pipfile.lock +++ b/Pipfile.lock @@ -1,7 +1,7 @@ { "_meta": { "hash": { - "sha256": "eefedff5ab3352737afd2b35e569f63fabc9802dd317665f8ba471c3be5c1201" + "sha256": "8761be25382a2935c8ad0b3066dfccbf4c9b9e57ac798152fdfee7e3905ab676" }, "pipfile-spec": 6, "requires": { @@ -16,8 +16,16 @@ ] }, "default": { + "awscli": { + "hashes": [ + "sha256:7bf8e31f83e79c9c5ab07fc7b82fdc15765f9c89140d71bda63e63f218ced859", + "sha256:ef62f799c4c72614933e3ba28a5aaefe88deed8d1886ca173f452da36add445a" + ], + "version": "==1.18.1" + }, "blis": { "hashes": [ + "sha256:00473602629ba69fe6565108e21957e918cb48b59f5bf2f6bfb6e04de42500cb", 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comes with a built-in medical spellchecker. +`txt2hpo` recognizes differences in inflection (e.g. hypotonic vs. hypotonia), handles negation and comes with a built-in medical spellchecker. # Installation -Install using pip: -```bash -pip install txt2hpo -``` - Install from GitHub ```bash @@ -21,38 +16,85 @@ python setup.py install # Library usage ```python -from txt2hpo.extract import hpo +from txt2hpo.extract import Extractor +extract = Extractor() + +result = extract.hpo("patient with developmental delay and hypotonia") -hpo_ids = hpo("patient with developmental delay and hypotonia") +print(result.hpids) -print(hpo_ids) -[{"hpid": ["HP:0001290"], "index": [37, 46], "matched": "hypotonia"}, - {"hpid": ["HP:0001263"], "index": [13, 32], "matched": "developmental delay"}] +["HP:0001263", "HP:0001290"] ``` -`txt2hpo` will attempt to correct spelling errors by default, at the cost of slower processing speed. +`txt2hpo` will attempt to correct spelling errors by default, at the cost of slower processing. This feature can be turned off by setting the `correct_spelling` flag to `False`. ```python -from txt2hpo.extract import hpo +from txt2hpo.extract import Extractor +extract = Extractor(correct_spelling = False) +result = extract.hpo("patient with devlopental delay and hyptonia") + +print(result.hpids) + +[] + + +``` + +`txt2hpo` handles negation using [negspaCy](https://spacy.io/universe/project/negspacy). To remove negated phenotypes set `remove_negated` flag to True. + -hpo_ids = hpo("patient with devlopental delay and hyptonia", correct_spelling=True) +```python +from txt2hpo.extract import Extractor +extract = Extractor(remove_negated=True) +result = extract.hpo("patient has developmental delay but no hypotonia") -print(hpo_ids) +print(result.hpids) -[{"hpid": ["HP:0001290"], "index": [37, 46], "matched": "hypotonia"}, - {"hpid": ["HP:0001263"], "index": [13, 32], "matched": "developmental delay"}] +["HP:0001263"] + ``` -`txt2hpo` outputs a valid JSON string, use`json.loads` to convert `txt2hpo` output to JSON/python list. +`txt2hpo` picks the longest overlapping phenotype by default. To disable this feature set `remove_overlapping` flag to False. + + +```python +from txt2hpo.extract import Extractor +extract = Extractor(remove_overlapping=False) +result = extract.hpo("patient with polycystic kidney disease") + +print(result.hpids) + +["HP:0000113", "HP:0000112"] -```python -import json -from txt2hpo.extract import hpo -hpo_ids = json.loads(hpo(text_string)) + +extract = Extractor(remove_overlapping=True) +result = extract.hpo("patient with polycystic kidney disease") + +print(result.hpids) + +["HP:0000113"] + + ``` +`txt2hpo` outputs a valid JSON string, which contains information about extracted HPIDs, their character span and matched string. + +```python +from txt2hpo.extract import Extractor +extract = Extractor() + +result = extract.hpo("patient with developmental delay and hypotonia") + +print(result.json) + + +'[{"hpid": ["HP:0001290"], "index": [37, 46], "matched": "hypotonia"}, +{"hpid": ["HP:0001263"], "index": [13, 32], "matched": "developmental delay"}]' + + +``` diff --git a/requirements.txt b/requirements.txt new file mode 100644 index 0000000..c3e6928 --- /dev/null +++ b/requirements.txt @@ -0,0 +1 @@ +https://s3-us-west-2.amazonaws.com/ai2-s2-scispacy/releases/v0.2.4/en_core_sci_sm-0.2.4.tar.gz#egg=en_core_sci_sm diff --git a/setup.py b/setup.py index 6ab5013..f03e980 100644 --- a/setup.py +++ b/setup.py @@ -11,7 +11,7 @@ name=__project__, packages=find_packages(), version=__version__, - description='Phenotype extraction using Named Entity Recognition', + description='HPO concept recognition and phenotype extraction tool', long_description=long_description, long_description_content_type='text/markdown', author='Vlad Gainullin , Kevin Arvai ', @@ -27,7 +27,13 @@ 'pandas', 'nltk', 'spacy', - 'networkx' + 'scispacy', + 'negspacy', + 'networkx', + 'gensim', + 'en_core_sci_sm' - ] + + ], + dependency_links=['https://s3-us-west-2.amazonaws.com/ai2-s2-scispacy/releases/v0.2.4/en_core_sci_sm-0.2.4.tar.gz#egg=en_core_sci_sm'] ) diff --git a/tests/test_build_tree.py b/tests/test_build_tree.py new file mode 100644 index 0000000..b798dea --- /dev/null +++ b/tests/test_build_tree.py @@ -0,0 +1,19 @@ +import unittest +import time + +from txt2hpo.build_tree import build_search_tree + + +class BuildTreeTestCase(unittest.TestCase): + def setUp(self): + self.startTime = time.time() + + def tearDown(self): + t = time.time() - self.startTime + print('%s: %.3f' % (self.id(), t)) + + def test_build_search_tree(self): + custom_synonyms = {"HP:0001263": ['DD', 'GDD']} + search_tree = build_search_tree(custom_synonyms) + self.assertEqual(search_tree['dd'], {1: {'dd': ['HP:0001263']}}) + self.assertEqual(search_tree['gdd'], {1: {'gdd': ['HP:0001263']}}) diff --git a/tests/test_cases.py b/tests/test_cases.py new file mode 100644 index 0000000..ca12a52 --- /dev/null +++ b/tests/test_cases.py @@ -0,0 +1,124 @@ +# Phenotype-distance/coocurance test cases + +test_case0 = """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}]""" + +test_case1 = """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0002014"], "index": [1597, 1605], "matched": "diarrhea"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}]""" + +test_case2 = """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0001290"], "index": [1095, 1104], "matched": "hypotonia"}, + {"hpid": ["HP:0002014"], "index": [1597, 1605], "matched": "diarrhea"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}]""" + + +test_case10 = """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0001250"], "index": [912, 920], "matched": "epilepsy"}, + {"hpid": ["HP:0000717"], "index": [1143, 1149], "matched": "autism"}, + {"hpid": ["HP:0000729", "HP:0001631"], + "index": [1169, 1172], + "matched": "ASD"}, + {"hpid": ["HP:0000752"], "index": [1234, 1247], "matched": "hyperactivity"}, + {"hpid": ["HP:0011856"], "index": [1418, 1422], "matched": "pica"}, + {"hpid": ["HP:0000718"], "index": [1433, 1443], "matched": "aggression"}, + {"hpid": ["HP:0000739"], "index": [1480, 1487], "matched": "anxiety"}, + {"hpid": ["HP:0002019"], "index": [1569, 1581], "matched": "constipation"}, + {"hpid": ["HP:0002014"], "index": [1597, 1605], "matched": "diarrhea"}, + {"hpid": ["HP:0000486"], "index": [1701, 1711], "matched": "strabismus"}, + {"hpid": ["HP:0002650"], "index": [1819, 1828], "matched": "scoliosis"}, + {"hpid": ["HP:0001371"], "index": [1836, 1848], "matched": "contractures"}, + {"hpid": ["HP:0000998"], "index": [1900, 1914], "matched": "hypertrichosis"}, + {"hpid": ["HP:0001363"], + "index": [2060, 2076], + "matched": "craniosynostosis"}, + {"hpid": ["HP:0001363"], + "index": [2231, 2247], + "matched": "craniosynostosis"}, + {"hpid": ["HP:0001363"], + "index": [2385, 2401], + "matched": "craniosynostosis"}, + {"hpid": ["HP:0000252"], "index": [2495, 2507], "matched": "microcephaly"}, + {"hpid": ["HP:0025502"], "index": [2638, 2648], "matched": "overweight"}, + {"hpid": ["HP:0000581"], + "index": [2935, 2951], + "matched": "blepharophimosis"}, + {"hpid": ["HP:0000506"], "index": [2959, 2970], "matched": "telecanthus"}, + {"hpid": ["HP:0008551"], "index": [3203, 3211], "matched": "microtia"}, + {"hpid": ["HP:0000508"], "index": [3282, 3288], "matched": "ptosis"}, + {"hpid": ["HP:0001270"], "index": [609, 620], "matched": "motor delay"}, + {"hpid": ["HP:0000729"], + "index": [1143, 1167], + "matched": "autism spectrum disorder"}, + {"hpid": ["HP:0000736"], + "index": [1391, 1416], + "matched": "were short attention span"}, + {"hpid": ["HP:0000478"], + "index": [1651, 1668], + "matched": "eye abnormalities"}, + {"hpid": ["HP:0000539"], + "index": [1670, 1692], + "matched": "refraction abnormality"}, + {"hpid": ["HP:0001382", "HP:0002761"], + "index": [1752, 1771], + "matched": "joint hypermobility"}, + {"hpid": ["HP:0001763"], "index": [1780, 1790], "matched": "pes planus"}, + {"hpid": ["HP:0040083"], "index": [1799, 1810], "matched": "toe walking"}, + {"hpid": ["HP:0000403"], + "index": [1870, 1892], + "matched": "recurrent otitis media"}, + {"hpid": ["HP:0001609"], "index": [1926, 1938], "matched": "hoarse voice"}, + {"hpid": ["HP:0004322"], + "index": [2458, 2475], + "matched": "Short stature was"}, + {"hpid": ["HP:0004325"], "index": [2586, 2601], "matched": "low body weight"}, + {"hpid": ["HP:0025502"], "index": [2633, 2648], "matched": "were overweight"}, + {"hpid": ["HP:0000581"], + "index": [2930, 2951], + "matched": "were blepharophimosis"}, + {"hpid": ["HP:0000426"], + "index": [2978, 3000], + "matched": "prominent nasal bridge"}, + {"hpid": ["HP:0000455"], "index": [3008, 3023], "matched": "broad nasal tip"}, + {"hpid": ["HP:0000582"], + "index": [3074, 3103], + "matched": "upslanting palpebral fissures"}, + {"hpid": ["HP:0400000"], "index": [3123, 3132], "matched": "tall chin"}, + {"hpid": ["HP:0000286"], + "index": [3140, 3156], + "matched": "epicanthal folds"}, + {"hpid": ["HP:0000160"], "index": [3164, 3176], "matched": "narrow mouth"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}, + {"hpid": ["HP:0000358"], + "index": [3233, 3257], + "matched": "posteriorly rotated ears"}, + {"hpid": ["HP:0000276"], "index": [3265, 3274], "matched": "long face"}]""" + + +test_case11_text = """Collin et al. (2008) examined 6 affected individuals from 3 families with retinitis pigmentosa, + all but 1 of whom displayed characteristic RP abnormalities including night blindness as the initial symptom, + retinal bone-spicule pigmentation and attenuated retinal vessels, constriction of visual fields, + and a nonrecordable ERG or ERG responses in a rod-cone pattern. + Two unrelated patients had posterior subcapsular cataracts. + The authors observed differences in the photoreceptor dystrophy between the families: + in 1 patient from family A, the cones were more severely affected than the rods (cone-rod pattern) + and kinetic visual fields were not constricted but showed bilateral central scotomas; + fundus examination revealed central abnormalities at the level of the retinal pigment epithelium + and moderate attenuation of retinal vessels. Her 60-year-old brother also had central fundus lesions, + but his ERG showed neither rod nor cone activity. Family B had relatively late onset of a classic form of RP, + with preservation of central vision. The proband in family C, who was the youngest patient in the study, + was the only one who was legally blind, due to severely constricted visual fields" +""" + +test_case11_out = [{"hpid": ["HP:0032118"], "index": [74, 83], "matched": "retinitis"}, + {"hpid": ["HP:0000510"], "index": [74, 94], "matched": "retinitis pigmentosa"}, + {"hpid": ["HP:0000662"], "index": [166, 181], "matched": "night blindness"}, +{"hpid": ["HP:0000618"], "index": [172, 181], "matched": "blindness"}, +{"hpid": ["HP:0001133"], "index": [272, 301], "matched": "constriction of visual fields"}, +{"hpid": ["HP:0007787"], "index": [394, 425], "matched": "posterior subcapsular cataracts"}, +{"hpid": ["HP:0000523"], "index": [404, 425], "matched": "subcapsular cataracts"}, +{"hpid": ["HP:0000518"], "index": [416, 425], "matched": "cataracts"}, +{"hpid": ["HP:0000603"], "index": [680, 695], "matched": "central scotoma"}, +{"hpid": ["HP:0000575"], "index": [688, 695], "matched": "scotoma"}, + +] diff --git a/tests/test_extract.py b/tests/test_extract.py index 368cffb..6f6ffd2 100644 --- a/tests/test_extract.py +++ b/tests/test_extract.py @@ -1,10 +1,19 @@ import unittest +import time import json - -from txt2hpo.extract import hpo, group_sequence +from txt2hpo.extract import Extractor, Data, group_sequence +from txt2hpo.data import load_model +from tests.test_cases import * +from txt2hpo.util import hpo_network class ExtractPhenotypesTestCase(unittest.TestCase): + def setUp(self): + self.startTime = time.time() + + def tearDown(self): + t = time.time() - self.startTime + print('%s: %.3f' % (self.id(), t)) def test_group_sequence(self): truth = [[0, 1], [3]] @@ -12,66 +21,395 @@ def test_group_sequence(self): def test_hpo(self): + extract = Extractor(correct_spelling=False) + # Test extracting single phenotype - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "hypotonia"}]) - self.assertEqual(hpo("hypotonia"), truth) + truth = [{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "Hypotonia"}] + self.assertEqual(extract.hpo("Hypotonia").entries_sans_context, truth) # Test adding non phenotypic term - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [5, 14], "matched": "hypotonia"}]) - self.assertEqual(hpo("word hypotonia"), truth) + truth = [{"hpid": ["HP:0001290"], "index": [5, 14], "matched": "hypotonia"}] + self.assertEqual(extract.hpo("Word hypotonia").entries_sans_context, truth) # Test handling punctuation - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [6, 15], "matched": "hypotonia"}]) - self.assertEqual(hpo("word, hypotonia"), truth) + truth = [{"hpid": ["HP:0001290"], "index": [6, 15], "matched": "hypotonia"}] + self.assertEqual(extract.hpo("Word, hypotonia").entries_sans_context, truth) # Test extracting a multiword phenotype - truth = json.dumps([{"hpid": ["HP:0001263"], "index": [0, 19], "matched": "developmental delay"}]) - self.assertEqual(hpo("developmental delay"), truth) + truth = [{"hpid": ["HP:0001263"], + "index": [0, 19], "matched": "Developmental delay"}] + self.assertEqual(extract.hpo("Developmental delay").entries_sans_context, truth) # Test extracting a multiword phenotype with reversed word order - truth = json.dumps([{"hpid": ["HP:0001263"], "index": [0, 19], "matched": "delay developmental"}]) - self.assertEqual(hpo("delay developmental"), truth) + truth = [{"hpid": ["HP:0001263"], "index": [0, 19], + "matched": "Delay developmental"}] + + self.assertEqual(extract.hpo("Delay developmental").entries_sans_context, truth) # Test extracting a phenotype with inflectional endings - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "hypotonic"}]) - self.assertEqual(hpo("hypotonic"), truth) + truth = [{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "Hypotonic"}] + self.assertEqual(extract.hpo("Hypotonic").entries_sans_context, truth) # Test extracting a multiword phenotype with inflectional endings and reversed order - truth = json.dumps([{"hpid": ["HP:0001263"], "index": [0, 19], "matched": "delayed development"}]) - self.assertEqual(hpo("delayed development"), truth) + truth = [{"hpid": ["HP:0001263"], "index": [0, 19], "matched": "Delayed development"}] + self.assertEqual(extract.hpo("Delayed development").entries_sans_context, truth) - # Test extracting multiple phenotypes - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "hypotonia"}, - {"hpid": ["HP:0001263"], "index": [11, 30], "matched": "developmental delay"}]) - self.assertEqual(hpo("hypotonia, developmental delay"), truth) + # Test extracting multiword phenotype following an unrelated phenotypic term + truth = [{"hpid": ["HP:0000365"], "index": [6, 18], "matched": "hearing loss"}] + self.assertEqual(extract.hpo("Delay hearing loss").entries_sans_context, truth) + + # Test extracting multiword phenotype preceding an unrelated phenotypic term + truth = [{"hpid": ["HP:0000365"], "index": [0, 12], "matched": "Hearing loss"}] + self.assertEqual(extract.hpo("Hearing loss following").entries_sans_context, truth) + + # Test extracting two multiword phenotype preceding interrupted by an unrelated phenotypic term + truth = [ + {"hpid": ["HP:0000365"], "index": [0, 12], "matched": "Hearing loss"}, + {"hpid": ["HP:0001263"], "index": [23, 42], "matched": "developmental delay"}, + ] + self.assertEqual(extract.hpo("Hearing loss following developmental delay").entries_sans_context, truth) # Test spellchecker - truth = json.dumps([{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "hypotonic"}]) - self.assertEqual(hpo("hyptonic", correct_spelling=True), truth) + extract = Extractor(correct_spelling=True) + truth = [{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "Hypotonic"}] + + self.assertEqual(extract.hpo("Hyptonic").entries_sans_context, truth) truth = [] - self.assertEqual(hpo("hyptonic", correct_spelling=False), truth) + extract = Extractor(correct_spelling=False) + self.assertEqual(extract.hpo("Hyptonic").entries_sans_context, truth) + + truth = [ + {"hpid": ["HP:0002757"],"index": [12, 30], "matched": "multiple fractures"}, + {"hpid": ["HP:0000938"], "index": [35, 45], "matched": "osteopenia"}, + ] + + self.assertEqual(truth, extract.hpo("Female with multiple fractures and osteopenia NA NA").entries_sans_context) + + truth = [{"hpid": ["HP:0001156"], "index": [30, 43], "matched": "brachydactyly"}] + + self.assertEqual(truth, extract.hpo("Female with fourth metacarpal brachydactyly").entries_sans_context) + + extract = Extractor(correct_spelling=False, remove_overlapping=False) + truth = [ + {"hpid": ["HP:0000964"], "index": [10, 16], "matched": "eczema"}, + {"hpid": ["HP:0000988"], "index": [18, 27], "matched": "skin rash"}, + {"hpid": ["HP:0000988"], "index": [23, 27], "matched": "rash"}, + {"hpid": ["HP:0008070"], "index": [33, 44], "matched": "sparse hair"}, + ] + resp = extract.hpo("Male with eczema, skin rash, and sparse hair").entries_sans_context + self.assertEqual(truth, resp) + + # Test extracting an abbreviated phenotype + truth = [{"hpid": ["HP:0001370"], "index": [0, 2], "matched": "RA"}] + self.assertEqual(extract.hpo("RA").entries_sans_context, truth) + + # Test extracting multiple phenotypes + truth = [{"hpid": ["HP:0001290"], "index": [0, 9], "matched": "Hypotonia"}, + {"hpid": ["HP:0001263"], "index": [11, 30], "matched": "developmental delay" + }] + self.assertEqual(extract.hpo("Hypotonia, developmental delay").entries_sans_context, truth) + + # Test term indexing given max length of extracted text + extract = Extractor(correct_spelling=False, max_length=20, chunk_by="max_length") + truth = [ + {"hpid": ["HP:0001263"], "index": [0, 19], "matched": "Developmental delay"}, + {"hpid": ["HP:0001290"], "index": [21, 30], "matched": "hypotonia"} + ] + self.assertEqual(extract.hpo("Developmental delay, hypotonia").entries_sans_context, truth) + def test_stop_word_phenos(self): # Test extracting multiple phenotypes with max_neighbors - truth = json.dumps([{"hpid": ["HP:0001263"], "index": [0, 23], "matched": "developmental and delay"}]) - self.assertEqual(hpo("developmental and delay", max_neighbors=2), truth) + extract = Extractor(correct_spelling=True, max_neighbors=3) + truth = [{"hpid": ["HP:0001263"], "index": [0, 23], "matched": "developmental and delay"}] + self.assertEqual(extract.hpo("developmental and delay").entries_sans_context, truth) + + extract = Extractor(correct_spelling=True, max_neighbors=1) truth = [] - self.assertEqual(hpo("developmental and delay", max_neighbors=1), truth) + self.assertEqual(extract.hpo("developmental and delay").entries_sans_context, truth) + + extract = Extractor(correct_spelling=False) # Test extracting single phenotype followed by multiword phenotype - truth = json.dumps([{"hpid": ["HP:0100710"], "index": [17, 26], "matched": "impulsive"}, - {"hpid": ["HP:0000750"], "index": [0, 12], "matched": "speech delay"}]) - self.assertEqual(hpo("speech delay and impulsive"), truth) + truth = [ + {"hpid": ["HP:0000750"], "index": [0, 12], "matched": "Speech delay"}, + {"hpid": ["HP:0100710"], "index": [17, 26], "matched": "impulsive"} + ] + self.assertEqual(extract.hpo("Speech delay and impulsive").entries_sans_context, truth) # Test extracting multiword phenotype followed by single phenotype - truth = json.dumps([{"hpid": ["HP:0100710"], "index": [0, 9], "matched": "impulsive"}, - {"hpid": ["HP:0000750"], "index": [14, 26], "matched": "speech delay"}]) - self.assertEqual(hpo("impulsive and speech delay"), truth) + truth = [ + {"hpid": ["HP:0100710"], "index": [0, 9], "matched": "Impulsive"}, + {"hpid": ["HP:0000750"], "index": [14, 26], "matched": "speech delay"} + ] + self.assertEqual(extract.hpo("Impulsive and speech delay").entries_sans_context, truth) - # Test term indexing given max length of extracted text + def test_hpo_big_text_spellcheck_on(self): + # test parsing a page + extract = Extractor(max_neighbors=2, remove_overlapping=False) + self.assertEqual(extract.hpo(test_case11_text).n_entries, 12) + + def test_hpo_big_text_spellcheck_off(self): + # test parsing a page + extract = Extractor(max_neighbors=2, correct_spelling=False, remove_overlapping=True) + self.assertEqual(extract.hpo(test_case11_text).n_entries, 7) + + def test_hpo_big_text_spellcheck_off_max3(self): + # test parsing a page + extract = Extractor(max_neighbors=3, correct_spelling=False, remove_overlapping=True) + self.assertEqual(extract.hpo(test_case11_text).n_entries, 8) + + def test_hpo_big_text_max_neighbors(self): + # test parsing a page + extract = Extractor(max_neighbors=1, correct_spelling=True, remove_overlapping=False) + hpo_max_2 = extract.hpo(test_case11_text).hpids + extract = Extractor(max_neighbors=3, correct_spelling=True, remove_overlapping=False) + hpo_max_3 = extract.hpo(test_case11_text).hpids + + self.assertNotEqual(hpo_max_2, hpo_max_3) + + def test_iteration_over_chunks(self): + # test performing multiple extractions in a row + sentences = ['Developmental delay', 'Hypotonia'] + extract = Extractor(correct_spelling=False) + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + sentences = ['Hypotonia', 'Developmental delay'] + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + extract = Extractor(correct_spelling=True) + sentences = ['Developmental delay', 'Hypotonia'] + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + sentences = ['Hypotonia', 'Developmental delay'] + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + sentences = ['Developmental delay', 'Hypotonia'] + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + sentences = ['Hypotonia', 'Developmental delay'] + for sentence in sentences: + self.assertNotEqual(extract.hpo(sentence).n_entries, 0) + + def test_conflict_resolver(self): + + model = load_model() + + extracted = [{"hpid": ["HP:0000729", "HP:0001631"], + "index": [50, 53], + "matched": "ASD", + "context": "the sample, 14,16 children were diagnosed with ASD, of whom 5689 had neurological and"}] + truth = [{"hpid": ["HP:0000729"], + "index": [50, 53], + "matched": "ASD"}] + + data = Data(entries=extracted, model=model) + data.resolve_conflicts() + self.assertEqual(truth, data.entries_sans_context) + + extracted = [{"hpid": ["HP:0000729", "HP:0001631"], + "index": [44, 47], + "matched": "ASD", + "context": "secundum, all underwent surgical repair for ASD except for 1 individual \ + whose defect spontaneously closed"}] + + truth = [{"hpid": ["HP:0001631"], + "index": [44, 47], + "matched": "ASD"}] + + data = Data(entries=extracted, model=model) + data.resolve_conflicts() + self.assertEqual(truth, data.entries_sans_context) + + # Test conflict resolution if terms have identical context similarity scores + + extracted = [{"hpid": ["HP:0001631", "HP:0001631"], + "index": [44, 47], + "matched": "ASD", + "context": "secundum, all underwent surgical repair for ASD except for 1 individual \ + whose defect spontaneously closed"}] + + # Expected result remove only one term + truth = [{"hpid": ["HP:0001631"], + "index": [44, 47], + "matched": "ASD"}] + + data = Data(entries=extracted, model=model) + data.resolve_conflicts() + self.assertEqual(truth, data.entries_sans_context) + + # Test conflict resolution if terms have identical context similarity scores + + extracted = [{"hpid": ["HP:0001631", "HP:0001631"], + "index": [44, 47], + "matched": "ASD", + "context": "secundum, all underwent surgical repair for ASD except for 1 individual \ + whose defect spontaneously closed"}] + + # Expected result remove only one term + truth = [{"hpid": ["HP:0001631"], + "index": [44, 47], + "matched": "ASD"}] + + data = Data(entries=extracted, model=model) + data.resolve_conflicts() + self.assertEqual(truth, data.entries_sans_context) + + # Test conflict resolution if 2 of 3 terms have identical context similarity scores + + extracted = [{"hpid": ["HP:0000729", "HP:0001631", "HP:0001631"], + "index": [44, 47], + "matched": "ASD", + "context": "secundum, all underwent surgical repair for ASD except for 1 individual \ + whose defect spontaneously closed"}] + + # Expected result remove only one term + truth = [{"hpid": ["HP:0001631"], + "index": [44, 47], + "matched": "ASD"}] + + data = Data(entries=extracted, model=model) + data.resolve_conflicts() + self.assertEqual(truth, data.entries_sans_context) + + def test_custom_synonyms(self): + # test adding custom synonyms + custom_syn = {"HP:0001263": ['DD', 'GDD'], "HP:0000729": ['ASD', 'PDD']} + + extract = Extractor(custom_synonyms=custom_syn) + truth = [{"hpid": ["HP:0001263"], "index": [0, 3], "matched": "GDD"}, + {"hpid": ["HP:0001263"], "index": [4, 6], "matched": "DD"}] + self.assertEqual(extract.hpo("GDD DD").entries_sans_context, truth) + + def test_extract_ambiguous(self): + # test resolver works + extract = Extractor(resolve_conflicts=True) + truth = [{"hpid": ["HP:0001631"], "index": [44, 47], "matched": "ASD"}] + test1 = extract.hpo("secundum, all underwent surgical repair for ASD except for 1 individual whose defect spontaneously closed") + self.assertEqual(truth, test1.entries_sans_context) + + def test_conflict_instantiate(self): + # Test that reinstantiation does not affect results + extract = Extractor(resolve_conflicts=True) + self.assertEqual(extract.resolve_conflicts, True) + res = extract.hpo("ASD") + self.assertEqual(len(res.entries[0]['hpid']), 1) + + extract = Extractor(resolve_conflicts=False) + self.assertEqual(extract.resolve_conflicts, False) + res = extract.hpo("ASD") + self.assertEqual(len(res.entries[0]['hpid']), 2) + + extract = Extractor(resolve_conflicts=True) + self.assertEqual(extract.resolve_conflicts, True) + res = extract.hpo("ASD") + self.assertEqual(len(res.entries[0]['hpid']), 1) + + def test_extract_from_repeated_context(self): + extract = Extractor() + truth = [{"hpid": ["HP:0000154"], "index": [16, 26], "matched": "wide mouth"}] + resp = extract.hpo("Wide gait and a wide mouth") + self.assertEqual(truth, resp.entries_sans_context) + + def test_extract_json_property(self): + extract = Extractor(max_neighbors=2) + truth = json.dumps([{"hpid": ["HP:0000154"], + "index": [16, 26], + "matched": "wide mouth"}]) + resp = extract.hpo("Wide gait and a wide mouth") + self.assertEqual(truth, resp.json) + + def test_extract_without_negated(self): + + # negation should not apply if negation is part of matched string + extract = Extractor(remove_negated=True) + resp = extract.hpo("the patient presents with absent speech") + self.assertEqual(resp.hpids, ['HP:0001344']) + + extract = Extractor() + resp = extract.hpo("developmental delay and a wide mouth") + resp.detect_negation() + self.assertEqual(set(['HP:0000154', 'HP:0001263']), set(resp.hpids)) + + resp = extract.hpo("developmental delay with no wide mouth") + resp.detect_negation() + resp.remove_negated() + self.assertEqual(['HP:0001263'], resp.hpids) + + extract = Extractor(remove_negated=True) + resp = extract.hpo("developmental delay without a wide mouth") + self.assertEqual(['HP:0001263'], resp.hpids) + + extract = Extractor(remove_negated=True) + resp = extract.hpo("no developmental delay, but has a wide mouth") + self.assertEqual(['HP:0000154'], resp.hpids) + + extract = Extractor(remove_negated=True) + resp = extract.hpo("the patient has a wide mouth but no developmental delay.") + self.assertEqual(['HP:0000154'], resp.hpids) + + extract = Extractor(remove_negated=True) + resp = extract.hpo("the patient does not have either a wide mouth or developmental delay.") + self.assertEqual([], resp.hpids) + + def test_capitalization_affecting_outcome(self): + extract = Extractor(correct_spelling=False) + resp = extract.hpo("enlarged heart") + self.assertEqual(resp.hpids, ['HP:0001640']) + + resp = extract.hpo(" enlarged heart") + self.assertEqual(resp.hpids, ['HP:0001640']) + + resp = extract.hpo("Enlarged heart") + self.assertEqual(resp.hpids, ['HP:0001640']) + + resp = extract.hpo(" Enlarged heart") + self.assertEqual(resp.hpids, ['HP:0001640']) + + resp = extract.hpo("Male with Sotos, enlarged heart") + self.assertEqual(resp.hpids, ['HP:0001640']) + + resp = extract.hpo("Myoclonus Seizures") + self.assertEqual(set(resp.hpids), set(['HP:0002123'])) + + def test_remove_overlapping(self): + extract = Extractor(correct_spelling=False, remove_overlapping=False) + resp = extract.hpo("Polycystic kidney disease and myoclonus seizures.") + self.assertEqual(set(resp.hpids), set(['HP:0000113', 'HP:0000112', 'HP:0001250', 'HP:0002123','HP:0001336'])) + + extract = Extractor(correct_spelling=False, remove_overlapping=True) + resp = extract.hpo("Polycystic kidney disease and myoclonus seizures.") + self.assertEqual(set(resp.hpids), set(['HP:0002123','HP:0000113'])) + + def test_multiple_matches(self): + extract = Extractor(correct_spelling=False, remove_overlapping=True, resolve_conflicts=True) + resp = extract.hpo("l pre auricular ear pit.") + self.assertEqual(resp.hpids, ['HP:0004467']) + resp = extract.hpo("Coloboma, microphthalmia, macrocephaly, ear pit.") + self.assertEqual(set(resp.hpids), set(['HP:0000589', 'HP:0004467', 'HP:0000568', 'HP:0000256'])) + + def test_handing_term_hyphenation(self): + extract = Extractor(correct_spelling=False, remove_overlapping=True, resolve_conflicts=True) + hyphenated_phenos = \ + [ + (hpo_network.nodes()[x]['name'], x) for x in hpo_network.nodes() \ + if ( + '-' in hpo_network.nodes()[x]['name'] and + ',' not in hpo_network.nodes()[x]['name'] and + '.' not in hpo_network.nodes()[x]['name'] + ) + + ] + # Phenotypes where word-order is important is a limitation of current parsing method + known_bugs = ['HP:0000510', 'HP:0030932'] + #known_bugs = [] + long_phenos = ['HP:0011654', 'HP:0410303'] + hyphenated_phenos = [x for x in hyphenated_phenos if x[1] not in known_bugs + long_phenos] - truth = json.dumps([ - {"hpid": ["HP:0001263"], "index": [0, 19], "matched": "developmental delay"}, - {"hpid": ["HP:0001290"], "index": [21, 30], "matched": "hypotonia"} - ]) - self.assertEqual(hpo("developmental delay, hypotonia", max_length=20), truth) + for test in hyphenated_phenos: + # current version is not expected to extract very long phenotypes + hpids = extract.hpo(test[0]).hpids + self.assertEqual(hpids, [test[1]]) + # replace hyphens with space + hpids = extract.hpo(test[0].replace('-', ' ')).hpids + self.assertEqual(hpids, [test[1]]) diff --git a/tests/test_nlp.py b/tests/test_nlp.py new file mode 100644 index 0000000..7ed8a3e --- /dev/null +++ b/tests/test_nlp.py @@ -0,0 +1,36 @@ +import unittest +import time + +from txt2hpo.nlp import similarity_term_to_context +from txt2hpo.data import load_model + + +class NLPCase(unittest.TestCase): + def setUp(self): + self.startTime = time.time() + + def tearDown(self): + t = time.time() - self.startTime + print('%s: %.3f' % (self.id(), t)) + + def test_similarity_term_to_context(self): + + model = load_model() + + context1 = 'In the sample, 14,516 children were diagnosed with , of whom 5,689 had neurological symptoms' + context2 = 'secundum, all underwent surgical repair except for 1 individual whose defect spontaneously closed' + + # "Autistic behavior" + term1 = 'HP:0000729' + + # "Atrial septal defect" + term2 = 'HP:0001631' + + t_aut_c_aut = similarity_term_to_context(term1, context1, model) + t_aut_c_chd = similarity_term_to_context(term1, context2, model) + + t_chd_c_aut = similarity_term_to_context(term2, context1, model) + t_chd_c_chd = similarity_term_to_context(term2, context2, model) + + self.assertGreater(t_aut_c_aut, t_chd_c_aut) + self.assertGreater(t_chd_c_chd, t_aut_c_chd) \ No newline at end of file diff --git a/tests/test_summarize.py b/tests/test_summarize.py new file mode 100644 index 0000000..68b59e4 --- /dev/null +++ b/tests/test_summarize.py @@ -0,0 +1,60 @@ +import unittest + +import tests.test_cases as tc +from txt2hpo.summarize import phenotype_distance, distances + + +class ExtractPhenotypesTestCase(unittest.TestCase): + + def test_phenotype_distance(self): + "[{'hpid': ['HP:0001290'], 'index': [895, 904], 'matched': 'hypotonia'}," \ + "{'hpid': ['HP:0000218'], 'index': [3184, 3195], 'matched': 'high palate'}]" + truth = [('HP:0000218', 'HP:0001290', abs(3184 - 895) / 3184)] + result = phenotype_distance(tc.test_case0) + result = [x for x in result if x[0] != x[1]] + self.assertEqual(result, truth) + + """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0002014"], "index": [1597, 1605], "matched": "diarrhea"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}]""" + + truth = [('HP:0002014', 'HP:0001290', 0.22047738693467336), + ('HP:0000218', 'HP:0001290', 0.7189070351758794), + ('HP:0000218', 'HP:0002014', 0.498429648241206)] + result = phenotype_distance(tc.test_case1) + result = [x for x in result if x[0] != x[1]] + self.assertEqual(result, truth) + + # Hypotonia is seen twice + """[{"hpid": ["HP:0001290"], "index": [895, 904], "matched": "hypotonia"}, + {"hpid": ["HP:0001290"], "index": [1095, 1104], "matched": "hypotonia"}, + {"hpid": ["HP:0002014"], "index": [1597, 1605], "matched": "diarrhea"}, + {"hpid": ["HP:0000218"], "index": [3184, 3195], "matched": "high palate"}]""" + + # Multiple unique entries for repeated term + truth = [('HP:0002014', 'HP:0001290', 0.22047738693467336), + ('HP:0000218', 'HP:0001290', 0.7189070351758794), + ('HP:0002014', 'HP:0001290', 0.15766331658291458), + ('HP:0000218', 'HP:0001290', 0.6560929648241206), + ('HP:0000218', 'HP:0002014', 0.498429648241206)] + result = phenotype_distance(tc.test_case2) + result = [x for x in result if x[0] != x[1]] + self.assertEqual(result, truth) + + def test_distances(self): + test_cases = [tc.test_case0, tc.test_case1, tc.test_case2] + truth = [{'idx1': 'HP:0001290', 'idx2': 'HP:0001290', 'mean_score': 0.0, 'n': 3 }, + {'idx1': 'HP:0000218', 'idx2': 'HP:0001290', 'mean_score': 0.6979690117252931, 'n': 3}, + {'idx1': 'HP:0000218', 'idx2': 'HP:0000218', 'mean_score': 0.0, 'n': 3}, + {'idx1': 'HP:0001290', 'idx2': 'HP:0002014', 'mean_score': 0.18907035175879397, 'n': 2}, + {'idx1': 'HP:0002014', 'idx2': 'HP:0002014', 'mean_score': 0.0, 'n': 2}, + {'idx1': 'HP:0000218', 'idx2': 'HP:0002014', 'mean_score': 0.498429648241206, 'n': 2}] + result = distances(test_cases, min_n_distances=1).to_dict("records") + self.assertEqual(result, truth) + + truth = [{'idx1': 'HP:0001290', 'idx2': 'HP:0001290', 'mean_score': 0.0, 'n': 3}, + {'idx1': 'HP:0000218', 'idx2': 'HP:0001290', 'mean_score': 0.6979690117252931, 'n': 3}, + {'idx1': 'HP:0000218', 'idx2': 'HP:0000218', 'mean_score': 0.0, 'n': 3}] + + result = distances(test_cases, min_n_distances=2).to_dict("records") + self.assertEqual(result, truth) \ No newline at end of file diff --git a/txt2hpo/__init__.py b/txt2hpo/__init__.py index fa31794..cd29372 100644 --- a/txt2hpo/__init__.py +++ b/txt2hpo/__init__.py @@ -1,2 +1,2 @@ __project__ = 'txt2hpo' -__version__ = '0.1.0' \ No newline at end of file +__version__ = '0.2.0' \ No newline at end of file diff --git a/txt2hpo/build_tree.py b/txt2hpo/build_tree.py index d3cfbfc..47745e9 100644 --- a/txt2hpo/build_tree.py +++ b/txt2hpo/build_tree.py @@ -2,41 +2,48 @@ import pickle import sys from txt2hpo.config import logger, config -from txt2hpo.nlp import nlp +from txt2hpo.util import hpo_network +from txt2hpo.nlp import nlp_sans_ner from txt2hpo.nlp import st -from phenopy.config import config as phenopy_config -from phenopy import generate_annotated_hpo_network - -obo_file = phenopy_config.get('hpo', 'obo_file') - -disease_to_phenotype_file = phenopy_config.get('hpo', 'disease_to_phenotype_file') - -hpo_network, alt2prim, disease_records = \ - generate_annotated_hpo_network(obo_file, - disease_to_phenotype_file, - annotations_file=None, - ages_distribution_file=None - ) - -def build_search_tree(): +def build_search_tree(custom_synonyms=None, masked_terms=None): """ Build stemmed, search tree for phenotypes / n-grams :param hpo: hpo object from phenopy + :param custom_synonyms: dictionary of hpo-id (key), list of synonyms (value) + :param masked_terms: block specific hpids from parsing :return: nested dictionary """ + if custom_synonyms == None: + custom_synonyms = {} + + if masked_terms == None: + masked_terms = ['HP:0000001'] + else: + masked_terms += ['HP:0000001'] + terms = {} - print("") logger.info('Building a stemmed parse tree, this may take a few seconds, dont worry this is a one time thing \n') + + for hpid, synonyms in custom_synonyms.items(): + if hpid in masked_terms: + continue + if hpid in hpo_network.nodes(): + if 'synonyms' in hpo_network.nodes[hpid]: + hpo_network.nodes[hpid]['synonyms'] += synonyms + else: + hpo_network.nodes[hpid]['synonyms'] = synonyms + i = 0 n_nodes = len(hpo_network.nodes) for node in hpo_network: + if node in masked_terms: + continue term = hpo_network.nodes[node]['name'] if 'synonyms' in hpo_network.nodes[node]: synonyms = hpo_network.nodes[node]['synonyms'] - else: synonyms = [] @@ -45,19 +52,24 @@ def build_search_tree(): # extend names using custom rules extended_names = [] for name in names: - - extended_names.append(name) + name = name.replace(', ',' ') + name = name.replace(',', ' ') + extended_names.append(name.lower()) + extended_names.append(name.capitalize()) + extended_names.append(name.title()) + extended_names.append(name.replace('-',' ')) extended_names.append(name.replace('Abnormality', 'Disorder')) for name in extended_names: - tokens = nlp(name) + tokens = nlp_sans_ner(name) tokens = [st.stem(st.stem(x.lemma_.lower())) for x in tokens if not x.is_stop and not x.is_punct] for token in tokens: if token not in terms: terms[token] = {} if len(tokens) not in terms[token]: terms[token][len(tokens)] = {} + name_identifier = ' '.join(sorted(tokens)) if name_identifier not in terms[token][len(tokens)]: terms[token][len(tokens)][name_identifier] = [node] @@ -101,3 +113,4 @@ def update_progress(progress): search_tree = build_search_tree() with open(config.get('tree', 'parsing_tree'), 'wb') as fh: pickle.dump(search_tree, fh) + diff --git a/txt2hpo/config.py b/txt2hpo/config.py index 4610f2c..7af2103 100644 --- a/txt2hpo/config.py +++ b/txt2hpo/config.py @@ -1,6 +1,7 @@ import configparser import logging import os +from gensim.models import KeyedVectors from txt2hpo import __project__, __version__ # create logger @@ -49,8 +50,17 @@ data_directory, 'parsing_tree.pkl', ), - } + config['models'] = {} + d2v_path = os.path.join(os.path.dirname(__file__), 'data/doc2vec_dm0_tagUniq_ep51_sa1e-05_vs40_ws18_mc5_neg5.wv.gz') + d2v_vw_path = os.path.join(data_directory, 'doc2vec.wv') + wv = KeyedVectors.load(d2v_path) + wv.save(d2v_vw_path) + config['models']['doc2vec'] = d2v_vw_path + + config['data'] = {} + spellcheck_vocab_path = os.path.join(os.path.dirname(__file__), 'data/spellcheck_vocab_upd032020.json') + config['data']['spellcheck_vocab'] = spellcheck_vocab_path with open(os.path.join(config_directory, 'txt2hpo.ini'), 'w') as configfile: logger.info('writing config file to: %s '%config_directory) @@ -65,4 +75,3 @@ config.read(config_file) logger.info(f'Using configuration file: {config_file}') - diff --git a/txt2hpo/data/__init__.py b/txt2hpo/data/__init__.py index e69de29..56c8109 100644 --- a/txt2hpo/data/__init__.py +++ b/txt2hpo/data/__init__.py @@ -0,0 +1,16 @@ +import json +from gensim.models import KeyedVectors +from txt2hpo.config import config + + +def load_model(): + if 'doc2vec' in config['models']: + wv = KeyedVectors.load(config['models']['doc2vec']) + return wv + + +def load_spellcheck_vocab(): + if 'spellcheck_vocab' in config['data']: + with open(config['data']['spellcheck_vocab'], "rt") as fh: + spellcheck_vocab = json.load(fh) + return spellcheck_vocab diff --git a/txt2hpo/data/doc2vec_dm0_tagUniq_ep51_sa1e-05_vs40_ws18_mc5_neg5.wv.gz b/txt2hpo/data/doc2vec_dm0_tagUniq_ep51_sa1e-05_vs40_ws18_mc5_neg5.wv.gz new file mode 100644 index 0000000..42cc203 Binary files /dev/null and b/txt2hpo/data/doc2vec_dm0_tagUniq_ep51_sa1e-05_vs40_ws18_mc5_neg5.wv.gz differ diff --git a/txt2hpo/data/spellcheck_vocab.py b/txt2hpo/data/spellcheck_vocab.py deleted file mode 100644 index d32cd8f..0000000 --- a/txt2hpo/data/spellcheck_vocab.py +++ /dev/null @@ -1 +0,0 @@ -spellcheck_vocab = {"dsbs": 3123, "be": 2822982, "repair": 15876, "by": 602024, "two": 122326, "general": 11096, "process": 47727, "the": 4051289, "\ufeff1": 46661, "use": 317076, "a": 1868733, "intact": 5200, "homologous": 4158, "sequence": 90683, "and": 2573484, "refer": 6476, "to": 1457757, "recombination": 4362, "hr": 16812, "2": 187502, "join": 1305, "dna": 109683, "double": 12590, "strand": 12332, "end": 18939, "dse": 218, "in": 2485014, "homology": 4823, "independent": 34536, "manner": 14821, "1": 216871, "mammalian": 8251, "cell": 921620, "ej": 224, "of": 3064538, "dses": 47, "prominent": 4381, "dsb": 3014, "pathway": 81903, "canonical": 6138, "non": 63475, "c": 177328, "nhej": 2073, "which": 216127, "ku": 779, "ligase": 6627, "4": 106001, "dependent": 45055, "able": 15804, "conservative": 994, "way": 7775, "at": 323006, "junction": 8973, "although": 53389, "it": 146958, "adaptable": 24, "imperfectly": 21, "cohesive": 108, "2\u20134": 1196, "more": 5459, "recently": 26199, "alternative": 10873, "have": 464039, "describe": 83940, "that": 835897, "doe": 19703, "not": 295350, "require": 41585, "but": 122170, "initiate": 8215, "ctip": 1659, "single": 34896, "resection": 3761, "therefore": 51757, "highly": 27263, "mutagenic": 356, "typically": 4340, "generate": 33689, "deletion": 25611, "result": 192752, "from": 343757, "initial": 12209, "frequently": 8834, "microhomologies": 62, "distant": 3818, "resect": 1099, "2\u201310": 125, "several": 48342, "mechanism": 58857, "damage": 24164, "agent": 10667, "such": 76881, "ionize": 905, "radiation": 4786, "or": 362165, "reactive": 4678, "oxygen": 5289, "species": 12363, "nucleases": 296, "with": 1047683, "proximal": 5996, "prolonged": 188, "replication": 19969, "stress": 24262, "also": 198050, "11": 34647, "importantly": 10336, "arrest": 9043, "fork": 2790, "12,13": 1004, "structure": 45201, "inevitably": 179, "rearrangement": 4302, "we": 418360, "report": 115800, "cohesin": 1562, "complex": 72178, "prevent": 15615, "close": 11797, "specifically": 15447, "s": 24691, "phase": 21643, "14": 36871, "alternatively": 4366, "can": 166897, "copy": 13670, "through": 56661, "template": 5838, "switch": 5584, "indeed": 17161, "model": 81852, "genetic": 53067, "account": 13088, "for": 719604, "numb": 59289, "variation": 17563, "upon": 26911, "microhomology": 203, "anneal": 3023, "propose": 14120, "mmbir": 53, "fostes": 51, "mediate": 56877, "break": 4143, "induce": 112380, "stalling": 7, "switching": 37, "15\u201317": 491, "yeast": 8954, "chromosome": 21385, "occur": 30848, "via": 28860, "between": 175728, "diverge": 439, "repeat": 20419, "18": 30377, "on": 317329, "one": 87518, "component": 23449, "tether": 1797, "allow": 18864, "their": 72552, "immediate": 1328, "ligation": 2543, "19\u201322": 196, "remarkably": 3174, "defective": 5347, "exhibit": 24728, "strong": 26997, "instability": 3882, "underline": 1353, "fact": 14467, "essential": 16474, "maintenance": 6619, "genome": 27275, "stability": 12041, "consistently": 6278, "protect": 6023, "against": 27583, "mobility": 3182, "thus": 58440, "unscheduled": 86, "23\u201325": 368, "conversely": 4936, "involve": 59038, "translocation": 9589, "mouse": 119086, "drosophila": 4064, "26\u201328": 355, "however": 108211, "lead": 58787, "appear": 24443, "much": 152425, "because": 38870, "show": 293789, "event": 19877, "capture": 5624, "excise": 1529, "chromosomal": 4952, "2,29": 9, "moreover": 26535, "analysis": 170355, "reveal": 47499, "occurrence": 4758, "addition": 57334, "direct": 27473, "this": 487758, "associate": 135304, "while": 53493, "control": 176119, "per": 21048, "se": 3047, "extensively": 3251, "study": 295570, "rearrange": 598, "poorly": 4748, "document": 4889, "here": 20219, "address": 7281, "question": 6153, "impact": 14703, "distance": 6353, "both": 135952, "efficiency": 9528, "accuracy": 2688, "analyze": 46150, "precise": 3605, "molecular": 35684, "level": 235295, "live": 27707, "human": 126160, "context": 10205, "intrachromosomal": 80, "substrate": 22213, "monitor": 8328, "target": 79923, "into": 76684, "meganuclease": 7, "i": 47725, "scei.": 15, "these": 74339, "derive": 27764, "previously": 84890, "characterize": 21077, "validate": 10616, "discuss": 2577, "only": 86646, "few": 12274, "kb": 10708, "short": 17334, "nucleus": 20615, "scale": 8386, "sufficient": 9756, "significantly": 94106, "reduce": 70167, "error": 6586, "prone": 2006, "complexly": 10, "particularly": 9845, "favor": 3011, "partial": 5988, "duplication": 4720, "reporter": 15429, "ectopic": 4502, "ecs": 2842, "promote": 35998, "counteract": 1546, "53bp1": 2035, "suggest": 125676, "involvement": 9697, "initiation": 7163, "accord": 30691, "datum": 128088, "pattern": 26724, "speculate": 5387, "micro": 1483, "arise": 4897, "thereby": 8976, "indicate": 95569, "requirement": 4115, "spatio": 100, "temporal": 2814, "gap": 3830, "couple": 8318, "insertion": 5574, "possibility": 13810, "alter": 23167, "even": 20788, "add": 18488, "additional": 37821, "risk": 71638, "integrity": 4201, "design": 13049, "key": 17963, "difference": 62227, "scei": 450, "site": 84243, "34": 15685, "bp": 14839, "versus": 15230, "3200": 33, "fig": 291203, "1a": 22942, "s1": 23456, "supplementary": 65192, "information": 16803, "34-bp": 7, "should": 14230, "rapid": 6731, "contrast": 37105, "3200-bp": 6, "absolutely": 403, "synapsis": 1217, "step": 15109, "bring": 1713, "together": 26655, "prior": 13141, "expression": 352343, 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chain +import spacy +import re + from txt2hpo.build_tree import update_progress, hpo_network from txt2hpo.config import logger from txt2hpo.spellcheck import spellcheck -from txt2hpo.nlp import nlp +from txt2hpo.nlp import nlp_model, nlp_sans_ner, similarity_term_to_context from txt2hpo.nlp import st -from txt2hpo.build_tree import search_tree +from txt2hpo.data import load_model +from txt2hpo.build_tree import search_tree, build_search_tree +from txt2hpo.util import remove_key -def group_sequence(lst): - """ - Break a sequence of integers into continuous groups - [1,2,3,5,7,8] -> [[1,2,3],[5],[7,8]] - :param lst: list of ints - :return: list of lists +class Data(object): + def __init__(self, entries=None, model=None, negation_model=None): + if not entries: + self.entries = [] + else: + self.entries = entries + self.model = model + self.negation_model = negation_model + + def add(self,entry): + self.entries += entry + + def remove(self, item): + self.entries.remove(item) + + def remove_tagged(self, tag, state=True): + to_remove = [entry for entry in self.entries if entry[tag] is state] + for element in to_remove: + self.remove(element) + + def detect_negation(self): + for entry in self.entries: + entry['negated_tokens'] = ' '.join([e.text for e in self.negation_model(entry['context']).ents if e._.negex]) + entry['negated'] = [t.text for t in nlp_sans_ner(entry['negated_tokens'])] + if isinstance(entry['matched_tokens'], (spacy.tokens.doc.Doc, spacy.tokens.span.Span)): + entry['matched_words'] = [t.text for t in entry['matched_tokens']] + elif isinstance(entry['matched_tokens'], spacy.tokens.token.Token): + entry['matched_words'] = [entry['matched_tokens'].text] + else: + entry['matched_words'] = [] + entry['is_negated'] = True if set(entry['negated']).intersection(set(entry['matched_words'])) else False + + def remove_negated(self): + self.detect_negation() + self.remove_tagged('is_negated') + + def remove_overlapping(self): + self._mark_overlapping() + self.remove_tagged('is_longest', False) + + def _mark_overlapping(self): + """ + Keep only term with widest span from a list of entries + :return: Modify self.entries + """ + range_dict = {} + for i, rec in enumerate(self.entries.copy()): + new_set = set(range(rec['index'][0], rec['index'][1])) + overlapping = [x for x in new_set if x in range_dict] + if overlapping: + prev_size = range_dict[overlapping[0]][0] + if len(new_set) > prev_size: + for idx in new_set: + range_dict[idx] = (len(new_set), i) + else: + for idx in new_set: + range_dict[idx] = (len(new_set), i) + + unique_elements = set([x[1] for x in range_dict.values()]) + + for i, rec in enumerate(self.entries.copy()): + if i in unique_elements: + rec['is_longest'] = True + else: + rec['is_longest'] = False + self.entries[i] = rec + + def resolve_conflicts(self): + """ + Pick most likely HPO ID based on context + :param extracted_terms: list of dictionaries identified by extract_hpo_terms + :return: list of dictionaries with resolved conflicts + """ + if not self.model: + logger.critical("Doc2vec model does not exist or could not be loaded") + + resolved_terms = [] + for entry in self.entries: + similarity_scores = [] + if len(entry['hpid']) > 1: + for term in entry['hpid']: + similarity_scores.append(similarity_term_to_context(term, entry['context'], self.model)) + + # reduce matches until only one term left + for i in range(len(similarity_scores) - 1): + idx_least_likely_term = similarity_scores.index(min(similarity_scores)) + least_likely_term = entry['hpid'][idx_least_likely_term] + entry['hpid'].remove(least_likely_term) + + resolved_terms.append(entry) + self.entries = resolved_terms + + @property + def hpids(self): + return list(set(np.array([x['hpid'] for x in self.entries]).flatten())) + + @property + def json(self): + result = self.entries_sans_context.copy() + return json.dumps(result) + + @property + def contents(self): + return self.entries + + @property + def entries_sans_context(self): + result = self.entries.copy() + result = sorted(result, key=lambda i: i['index'][0], reverse=False) + result = remove_key(result, 'context') + result = remove_key(result, 'matched_tokens') + result = remove_key(result, 'is_longest') + return result + + @property + def n_entries(self): + return len(self.entries) + + +class Extractor: + + """ Converts text to HPO annotated JSON object + + Args: + correct_spelling: (True,False) attempt to correct spelling using spellcheck + max_neighbors: (int) max number of phenotypic groups to attempt to search for a matching phenotype + max_length: (int) max document length in characters, higher limit will require more memory + context_window: (int) dimensions of context to return number of tokens in each direction + resolve_conflicts: (True,False) loads big model + custom_synonyms: (dict) dictionary of additional synonyms to map + """ - if not lst: - return [] - grouped = [[lst[0]]] - for i in range(1, len(lst)): - if lst[i - 1] + 1 == lst[i]: - grouped[-1].append(lst[i]) + + def __init__(self, correct_spelling=True, + resolve_conflicts=True, + remove_negated=False, + remove_overlapping=True, + max_neighbors=3, + max_length=1000000, + context_window=8, + model=None, + custom_synonyms=None, + negation_language="en", + chunk_by='phrase' + ): + + self.correct_spelling = correct_spelling + self.resolve_conflicts = resolve_conflicts + self.remove_negated = remove_negated + self.remove_overlapping = remove_overlapping + self.max_neighbors = max_neighbors + self.max_length = max_length + self.context_window = context_window + self.negation_model = nlp_model(negation_language=negation_language) + self.chunk_by = chunk_by + if custom_synonyms: + self.search_tree = build_search_tree(custom_synonyms=custom_synonyms) else: - grouped.append([lst[i]]) - return grouped + self.search_tree = search_tree + if model is None: + self.model = load_model() -def index_tokens(stemmed_tokens): - """index phenotype tokens by matching each stem against root of search tree""" - phenotokens = [] - phenindeces = [] + def hpo(self, text): + """ + extracts hpo terms from text + :param text: text of type string + :return: Data object + """ - for i, token in enumerate(stemmed_tokens): - if token in search_tree: - phenotokens.append(token) - phenindeces.append(i) + nlp_sans_ner.max_length = self.max_length - return phenotokens, phenindeces + extracted_terms = Data(model=self.model, negation_model=self.negation_model) + len_last_chunk = 0 -def assemble_groups(groups, phen_groups, max_neighbors): - """Assemble adjacent groups of phenotypes into groups of various sizes""" - for i in range(len(groups)): - if groups[i] not in phen_groups: - phen_groups.append(groups[i]) + if self.chunk_by == "max_length": - # make sure not to modify original groups object - adjacent_groups = groups[i].copy() - for j in range(1, max_neighbors): - if len(groups) > i + j: - adjacent_groups += groups[i + j] - if adjacent_groups not in phen_groups: - phen_groups.append(adjacent_groups) - return phen_groups + chunks = [text[i:i + self.max_length] for i in range(0, len(text), self.max_length)] + elif self.chunk_by == "phrase": + chunks = re.split(";|,|\n|\r|\.", text) + for i, chunk in enumerate(chunks): -def find_hpo_terms(phen_groups, stemmed_tokens, tokens, base_index): - """Match hpo terms from stemmed tree to indexed groups in text""" - extracted_terms = [] - for phen_group in phen_groups: - # if there is only one phenotype in a group - if len(phen_group) == 1: - grp_phen_tokens = stemmed_tokens[phen_group[0]] + if self.correct_spelling: + chunk = spellcheck(chunk) - # if multiple phenotypes, get all words between - else: - grp_phen_tokens = " ".join(stemmed_tokens[min(phen_group):max(phen_group)+1]) + tokens = nlp_sans_ner(chunk) - # remove stop words and punctuation from group of phenotypes - grp_phen_tokens = nlp(grp_phen_tokens) - grp_phen_tokens = [x.text for x in grp_phen_tokens if not x.is_stop and not x.is_punct] + # Stem tokens + stemmed_tokens = [st.stem(st.stem(x.lemma_.lower())) for x in tokens] + + # Index tokens which match stemmed phenotypes + phenotokens, phenindeces = self.index_tokens(stemmed_tokens) + + # Group token indices + groups = group_sequence(phenindeces) + + # Add leave one out groups + groups = permute_leave_one_out(groups) + + # Find and fuse adjacent phenotype groups + assembled_groups = assemble_groups(groups, max_distance=self.max_neighbors) + + phen_groups = recombine_groups(assembled_groups) - # sort to match same order as used in making keys for search tree - try_term_key = ' '.join(sorted(grp_phen_tokens)) + # Extract hpo terms keep track of chunked coordinates, split character len=1 - # attempt to extract hpo terms from tree based on root, length of phrase and key - try: - hpids = search_tree[grp_phen_tokens[0]][len(grp_phen_tokens)][try_term_key] + extracted_terms.add(self.find_hpo_terms(tuple(phen_groups), + tuple(stemmed_tokens), + tokens, + base_index=len_last_chunk, + )) + if self.chunk_by == 'phrase': + len_last_chunk += len(chunk) + 1 + elif self.chunk_by == 'max_length': + len_last_chunk += len(chunk) - except (KeyError, IndexError): - hpids = [] + if extracted_terms: + if self.resolve_conflicts is True: + extracted_terms.resolve_conflicts() + else: + pass + + if self.remove_negated: + extracted_terms.remove_negated() + + if self.remove_overlapping: + extracted_terms.remove_overlapping() + + return extracted_terms + + def find_hpo_terms(self, phen_groups, stemmed_tokens, tokens, base_index): + """Match hpo terms from stemmed tree to indexed groups in text""" + extracted_terms = [] - # if found any hpids, append to extracted - if hpids: + # remove stop words and punctuation from group of phenotypes + stop_punct_mask = [x.i for x in tokens if x.is_stop or x.is_punct] + cln_phen_groups = [] + for grp in phen_groups: + cand_grp = [x for x in grp if not x in stop_punct_mask] + if cand_grp: + cln_phen_groups.append(cand_grp) + + for phen_group in cln_phen_groups: + + # if there is only one phenotype in a group if len(phen_group) == 1: - matched_string = tokens[phen_group[0]] - start = tokens[phen_group[0]].idx - end = start + len(tokens[phen_group[0]]) + phen_group_string = stemmed_tokens[phen_group[0]] + phen_group_strings = [phen_group_string] + + # if multiple phenotypes, get all words between else: - matched_string = tokens[min(phen_group):max(phen_group)+1] - start = tokens[phen_group[0]:phen_group[-1]+1].start_char - end = tokens[phen_group[0]:phen_group[-1]+1].end_char + phen_start = min(phen_group) + phen_stop = max(phen_group) + 1 + phen_group_tokens = tokens[phen_start:phen_stop] + phen_group_tokens_minus_trash = [x for x in phen_group_tokens if not x.is_stop and not x.is_punct] + phen_group_tokens_minus_trash_idx = [x.i for x in phen_group_tokens_minus_trash] + phen_group_strings = [stemmed_tokens[x] for x in phen_group_tokens_minus_trash_idx] #phen_group_tokens_minus_trash_idx - extracted_terms.append({"hpid":hpids, "index":[base_index + start, base_index + end], "matched":matched_string.text}) - return extracted_terms + try_term_key = ' '.join(sorted(phen_group_strings)) + # attempt to extract hpo terms from tree based on root, length of phrase and key + try: + # copy matching hpids, because we may need to delete conflicting terms without affecting this obj + hpids = self.search_tree[phen_group_strings[0]][len(phen_group_strings)][try_term_key].copy() -def hpo(text, correct_spelling=True, max_neighbors=5, max_length=1000000): - """ - extracts hpo terms from text - :param text: text of type string - :param correct_spelling: (True,False) attempt to correct spelling using spellcheck - :param max_neighbors: (int) max number of phenotypic groups to attempt to search for a matching phenotype - :param max_length: (int) max document length in characters, higher limit will require more memory - :return: json of hpo terms, their indices in text and matched string - """ + except (KeyError, IndexError): + hpids = [] + + # if found any hpids, append to extracted + if hpids: + # extract span of just matching phenotype tokens + matching_tokens_index = [x.i for x in tokens if x.i in phen_group] + + if len(matching_tokens_index) == 1: + matched_tokens = tokens[matching_tokens_index[0]] + matched_string = matched_tokens.text + start = matched_tokens.idx + end = start + len(matched_string) + + else: + matched_tokens = tokens[min(matching_tokens_index):max(matching_tokens_index) + 1] + matched_string = matched_tokens.text + start = matched_tokens.start_char + end = matched_tokens.end_char + + if min(matching_tokens_index) < self.context_window: + context_start = 0 + else: + context_start = min(matching_tokens_index) - self.context_window - nlp.max_length = max_length + if max(matching_tokens_index) + self.context_window >= len(tokens) - 1: + context_end = len(tokens) - extracted_terms = [] + else: + context_end = max(matching_tokens_index) + self.context_window - chunks = [text[i:i + max_length] for i in range(0, len(text), max_length)] - len_last_chunk = 1 - for i, chunk in enumerate(chunks): - if correct_spelling: - chunk = spellcheck(chunk) - if len(chunk) < max_length: - nlp.max_length = len(chunk) + if context_start == context_end: + context = tokens[context_start] - tokens = nlp(chunk) + else: + context = tokens[context_start:context_end] - # Stem tokens - stemmed_tokens = [st.stem(st.stem(x.lemma_.lower())) for x in tokens] + found_term = dict(hpid=hpids, + index=[base_index + start, base_index + end], + matched=matched_string, + context=context.text, + matched_tokens=matched_tokens, + ) - # Index tokens which match stemmed phenotypes - phenotokens, phenindeces = index_tokens(stemmed_tokens) + if found_term not in extracted_terms: + extracted_terms.append(found_term) - # Group token indices - groups = group_sequence(phenindeces) - phen_groups = [] + return extracted_terms - # Add individual word token indices to phenotype groups - phen_groups += [[x] for x in phenindeces] + def index_tokens(self, stemmed_tokens): + """index phenotype tokens by matching each stem against root of search tree""" + phenotokens = [] + phenindices = [] + for i, token in enumerate(stemmed_tokens): + if token in self.search_tree: + phenotokens.append(token) + phenindices.append(i) - # Find and fuse adjacent phenotype groups - phen_groups = assemble_groups(groups, phen_groups, max_neighbors) + return phenotokens, phenindices - # Extract hpo terms - extracted_terms += find_hpo_terms(phen_groups, stemmed_tokens, tokens, base_index=i * len_last_chunk) - len_last_chunk = len(chunk) - if extracted_terms: - return json.dumps(extracted_terms) - else: +def group_sequence(lst): + """ + Break a sequence of integers into continuous groups + [1,2,3,5,7,8] -> [[1,2,3],[5],[7,8]] + :param lst: list of ints + :return: list of lists + """ + if not lst: return [] + grouped = [[lst[0]]] + for i in range(1, len(lst)): + if lst[i - 1] + 1 == lst[i]: + grouped[-1].append(lst[i]) + else: + grouped.append([lst[i]]) + return grouped -def self_evaluation(correct_spelling=False): +def assemble_groups(original, max_distance=2, min_compl=0.20): + """ + Join adjacent groups of phenotypes into new groups + [[1,2],[5,6]] -> {((1, 2), (5, 6)), (1, 2), (5, 6)} + :param original: Original list of lists of integers + :param max_distance: Maximum number of combinations + :param min_compl: Minimum fraction of complete term + :return: set of grouped tuple index sequences + """ + + def missing_elements(L): + start, end = L[0], L[-1] + return sorted(set(range(start, end + 1)).difference(L)) + + ori_set = set(tuple(set(x)) for x in original) + + fused_set = set() + final_set = set() + fused_set_uniq = set() + + for distance in range(1, max_distance): + combs = list(combinations(ori_set, distance)) + for comb in combs: + fused_comb = tuple(set(np.concatenate(comb))) + if fused_comb in ori_set: + continue + else: + fused_set.add(tuple(set(comb))) + + for item in fused_set: + if len(set(np.concatenate(item))) == len(np.concatenate(item)): + sorted_seq = sorted(list(chain(*item))) + gaps = missing_elements(sorted_seq) + completeness = len(sorted_seq) / (len(sorted_seq) + len(gaps)) + if completeness >= min_compl: + fused_set_uniq.add(item) + final_set = set(ori_set.union(fused_set_uniq)) + + return final_set + + +def recombine_groups(group_indx, min_r_length=1, max_r_length=3): + """ + Generate a set of all possible combinations for each group of indices + {((1, 2), (5,)), (1, 2), (5,)} -> [[1, 2], [1], [2], [5], [1, 2, 5], [1, 5], [2, 5]] + :param group_indx: set of tuples, output of assemble_groups + :param min_r_length: minimum length of combinations + :param max_r_length: maximum length of combinations + :return: list of lists of indices + """ + return_list = [] + for group in group_indx: + for r_length in range(min_r_length, max_r_length): + try: + new_comb = sorted(list(np.concatenate(group))) + except: + new_comb = list(group) + if new_comb not in return_list: + return_list.append(new_comb) + for new_mix_comb in list(combinations(new_comb, r_length)): + new_mix_comb = sorted(new_mix_comb) + if new_mix_comb not in return_list: + return_list.append(list(new_mix_comb)) + return return_list + + +def permute_leave_one_out(original_list, min_terms=1): + """ + Supplement lists of iterables with groups where each of the items is left out + :param original_list: + :param min_terms: + :return: supplemented list + [['1','2','3']] -> [['1', '2', '3'], ['2', '3'], ['1', '3'], ['1', '2']] + """ + permuted_list = original_list.copy() + for group in original_list: + if len(group) <= min_terms: + continue + for i, x in enumerate(group): + permuted_group = group.copy() + del permuted_group[i] + if permuted_group not in permuted_list: + permuted_list.append(permuted_group) + return permuted_list + + +def self_evaluation(correct_spelling=False, resolve_conflicts=False): total = 0 correct = 0 wrong = [] @@ -154,33 +454,20 @@ def self_evaluation(correct_spelling=False): logger.info('Running self evaluation, this may take a few minutes \n') i = 0 n_nodes = len(hpo_network.nodes) - + ext = Extractor(correct_spelling=correct_spelling, remove_overlapping=True, resolve_conflicts=True) for node in hpo_network: total += 1 term = hpo_network.nodes[node]['name'] hpids = [] - extracted = hpo(term, correct_spelling=correct_spelling) - if extracted: - extracted = json.loads(extracted) - - for item in extracted: - hpids += item['hpid'] - - if str(node) in hpids: - correct += 1 - else: - wrong.append(dict( - actual=node, - actual_name=term, - extracted=hpids, - extracted_name=[hpo_network.nodes[x]['name'] for x in hpids], - )) + extracted = ext.hpo(term).hpids + if str(node) in extracted: + correct += 1 else: wrong.append(dict( actual=node, actual_name=term, - extracted=[], - extracted_name=[], + extracted=hpids, + extracted_name=[hpo_network.nodes[x]['name'] for x in hpids], )) i += 1 @@ -189,6 +476,5 @@ def self_evaluation(correct_spelling=False): logger.info('Done \n') - logger.info(f"{(correct/total)*100} percent correct, {len(wrong)} items wrong") + logger.info(f"{(correct / total) * 100} percent correct, {len(wrong)} items wrong") return wrong - diff --git a/txt2hpo/nlp.py b/txt2hpo/nlp.py index 7fb2a31..b348919 100644 --- a/txt2hpo/nlp.py +++ b/txt2hpo/nlp.py @@ -1,23 +1,72 @@ import spacy +import en_core_sci_sm +from negspacy.negation import Negex +from gensim.parsing.preprocessing import remove_stopwords from txt2hpo.config import logger +from txt2hpo.util import hpo_network from nltk.stem import RegexpStemmer +from spacy.tokens import Token +def nlp_model(negation_language="en"): + try: + nlp = en_core_sci_sm.load(disable=["tagger", "parser"]) + nlp.add_pipe(nlp.create_pipe('sentencizer')) + negex = Negex(nlp, language=negation_language, chunk_prefix=["no"]) + nlp.add_pipe(negex, last=True) + Token.set_extension('negex', default=False, force=True) + + except OSError: + nlp = None + logger.info('Negation model could not be loaded\n') + + if nlp: + for not_a_stop in remove_from_stops.split(" "): + nlp.vocab[not_a_stop].is_stop = False + nlp.vocab[not_a_stop.capitalize()].is_stop = False + + return nlp + try: - nlp = spacy.load("en_core_web_sm", disable=["tagger", "parser", "ner"]) -except OSError: - logger.info('Performing a one-time download of an English language model for the spaCy POS tagger\n') - from spacy.cli import download - download('en') - nlp = spacy.load("en_core_web_sm", disable=["tagger", "parser", "ner"]) + nlp_sans_ner = en_core_sci_sm.load(disable=["tagger", "parser", "ner"]) + logger.info('Using sci spacy language model\n') +except OSError as e: + logger.info('Sci spacy language model could not be loaded\n') + logger.info('Performing a one-time download of an English language model\n') + from spacy.cli import download + download('en_core_web_sm') + nlp_sans_ner = spacy.load("en_core_web_sm", disable=["tagger", "parser", "ner"]) # these are used in hpo as part of phenotype definition, should block from filtering -remove_from_stops = "first second third fourth fifth under over front back behind ca below without no not " -remove_from_stops += "out up side right left more less during than take move full" +remove_from_stops = "first second third fourth fifth under over front back behind ca above below without no not " +remove_from_stops += "out up side right left more less during than take move full few all to" + for not_a_stop in remove_from_stops.split(" "): - nlp.vocab[not_a_stop].is_stop = False - nlp.vocab[not_a_stop.capitalize()].is_stop = False + nlp_sans_ner.vocab[not_a_stop].is_stop = False + nlp_sans_ner.vocab[not_a_stop.capitalize()].is_stop = False + st = RegexpStemmer('ing$|e$|able$|ic$|ia$|ity$|al$|ly$', min=7) + +def similarity_term_to_context(term, context, model): + """ + Score similarity (term|context) + :param term: hpo term + :param context: context of term + :param model: doc2vec model used to score term given context + :return: float + """ + def remove_out_of_vocab(tokens): + return [x for x in tokens if x in model.vocab] + + hpo_term = hpo_network.nodes[term] + hpo_term_definition = hpo_term['name'] + term_tokens = remove_out_of_vocab(remove_stopwords(hpo_term_definition).split()) + context_tokens = remove_out_of_vocab(remove_stopwords(context).split()) + if term_tokens and context_tokens: + sim = model.n_similarity(term_tokens, context_tokens) + else: + sim = -0.999 + return sim diff --git a/txt2hpo/spellcheck.py b/txt2hpo/spellcheck.py index cf1e516..fe5ba09 100644 --- a/txt2hpo/spellcheck.py +++ b/txt2hpo/spellcheck.py @@ -1,18 +1,17 @@ # Peter Norvig spell checker https://norvig.com/spell-correct.html -import spacy +from txt2hpo.data import load_spellcheck_vocab +from txt2hpo.nlp import nlp_sans_ner -from txt2hpo.data.spellcheck_vocab import spellcheck_vocab +spellcheck_vocab = load_spellcheck_vocab() -nlp = spacy.load("en_core_web_sm", disable=["tagger", "parser", "ner"]) - def P(word, N=sum(spellcheck_vocab.values())): "Probability of `word`." if word in spellcheck_vocab: return spellcheck_vocab[word] / N else: - return 0.1/N + return 0 def correction(word): @@ -50,7 +49,7 @@ def spellcheck(text): "correct spelling in a sentence" # clean up text from punctuation marks corrected_text = [] - for token in nlp(text): + for token in nlp_sans_ner(text): if token.is_stop: corrected_text.append(token.text_with_ws) @@ -58,8 +57,16 @@ def spellcheck(text): elif token.is_punct: corrected_text.append(token.text_with_ws) + elif len(token) < 5: + corrected_text.append(token.text_with_ws) else: - corrected_text.append(correction(token.text)) + corrected = correction(token.text.lower()) + if token.text[0].isupper() and token.text[-1].islower(): + corrected_text.append(corrected.capitalize()) + elif token.text[0].isupper() and token.text[-1].isupper(): + corrected_text.append(corrected.upper()) + else: + corrected_text.append(corrected) corrected_text.append(token.whitespace_) return "".join(corrected_text) \ No newline at end of file diff --git a/txt2hpo/summarize.py b/txt2hpo/summarize.py new file mode 100644 index 0000000..8ea7cdf --- /dev/null +++ b/txt2hpo/summarize.py @@ -0,0 +1,91 @@ + +import json +import pandas as pd +import numpy as np +from txt2hpo.util import group_pairs, summarize_tuples, df_from_tuples +from txt2hpo.config import logger +from phenopy.util import half_product +from functools import reduce + + +def phenotype_distance(extracted_hpos): + """ + Given the return from hpo, find the normalized distance between all terms in the document. + This could serve as a proxy for cooccurrence. + :param extracted_hpos: json string output of txt2hpo + :return: list of tuples (hpo1, hpo2, distance) + """ + + # load the extracted phenotypes into a pandas DataFrame + hpo_ids = json.loads(extracted_hpos) + df = pd.DataFrame(hpo_ids) + # make two rows for text offsets where more than one HPO term was identified + df = df.explode('hpid').reset_index(drop=True) + # location is the starting index of an HPO term in the document. + df['location'] = df['index'].apply(min) + + # use max_idx as a normalization factor (a proxy for how long the document is) + # TODO: + # Maybe include the length of the text in the json object as a top-level key. + max_idx = df['location'].max() + + # loop through the combinations and the diagonal, collect distances b/w each pair + phenotype_pairs = [] + for hpo_pair in half_product(len(df), len(df)): + x, y = sorted(hpo_pair, reverse=True) + distance = abs(df.iloc[x]['location'] - df.iloc[y]['location']) / max_idx + phenotype_pairs.append((df.iloc[x]['hpid'], df.iloc[y]['hpid'], distance)) + + return phenotype_pairs + + +def distances(array_of_extracted_hpos, min_n_distances=2, summary_method='mean'): + """ + Summarize array of phenotype distances generated from parsing distinct documents + :param array_of_extracted_hpos: array of phenotype distances + :param min_n_distances: minimum number of coocurances / distances to summarize to filter + :param summary_method: (mean,min) how to summarize coocurances / distances + :return: pandas dataframe + """ + dfs = [] + if summary_method not in ['mean', 'min']: + logger.critical(f'Summary method undefined: {summary_method} ') + return dfs + # process distances of each document into df + for extracted_hpo in array_of_extracted_hpos: + + # get term-term pairwise distances for each document + phenotype_pairs = phenotype_distance(extracted_hpo) + + # find identical pairs and combine their values + grouped_pairs = group_pairs(phenotype_pairs) + + # get summary metric for each term pair + summarized_pairs = summarize_tuples(grouped_pairs) + + # make a dataframe and append it to list + tup_df = df_from_tuples(summarized_pairs) + + dfs.append(tup_df) + + # merge dataframes + dfs_merged = reduce(lambda x, y: pd.merge(x, y, on=['idx1', 'idx2'], how="outer"), dfs) + + dfs_merged['values'] = dfs_merged.values.tolist() + # remove nan from list of distance values + dfs_merged['values'] = dfs_merged['values'].apply(lambda x: [v for v in x if ~np.isnan(v)]) + + # keep relationships with at least 3 distance values + dfs_merged['n'] = dfs_merged['values'].apply(len) + dfs_merged = dfs_merged[dfs_merged['n'] > min_n_distances] + + # summarize + if summary_method == 'mean': + dfs_merged['mean_score'] = dfs_merged['values'].apply(np.mean) + dfs_merged = dfs_merged[['mean_score', 'n']] + + elif summary_method == 'min': + dfs_merged['min_score'] = dfs_merged['values'].apply(np.min) + dfs_merged = dfs_merged[['min_score', 'n']] + + return dfs_merged.reset_index() diff --git a/txt2hpo/util.py b/txt2hpo/util.py new file mode 100644 index 0000000..c7c552a --- /dev/null +++ b/txt2hpo/util.py @@ -0,0 +1,59 @@ +import pandas as pd + +import math +from phenopy.config import config as phenopy_config +from phenopy import generate_annotated_hpo_network + + +obo_file = phenopy_config.get('hpo', 'obo_file') + +disease_to_phenotype_file = phenopy_config.get('hpo', 'disease_to_phenotype_file') + +hpo_network, alt2prim, disease_records = \ + generate_annotated_hpo_network(obo_file, + disease_to_phenotype_file, + annotations_file=None, + ages_distribution_file=None + ) + +def group_pairs(phenotype_pairs): + """group unique keys and combine their values""" + unique_pairs = {} + for k1,k2,value in phenotype_pairs: + sorted_pair = tuple(sorted([k1,k2])) + if sorted_pair not in unique_pairs: + unique_pairs[sorted_pair]=[value] + else: + if value not in unique_pairs[sorted_pair]: + unique_pairs[sorted_pair].append(value) + return unique_pairs + + +def summarize_tuples(pairs, how='min'): + """summarize collection of tuple with list values""" + summarized_pairs = [] + for k,v in pairs.items(): + if how == 'min': + summarized_value = min(v) + elif how == 'max': + summarized_value = max(v) + elif how == 'mean': + summarized_value = math.mean(v) + summarized_pairs.append((k[0], k[1], summarized_value)) + return summarized_pairs + + +def df_from_tuples(tuples): + """make pandas df from tuples""" + tup_df = pd.DataFrame(tuples, columns=['term_a','term_b','score']) + tup_df.index = pd.MultiIndex.from_arrays(tup_df[['term_a', 'term_b']].values.T, names=['idx1', 'idx2']) + tup_df = tup_df[['score']] + return tup_df + + +def remove_key(dict_list, key): + """remove a key from each dict in a list of dictionaries""" + for d in dict_list: + if key in d: + del d[key] + return dict_list