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wwysoc2 committed Aug 14, 2024
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4 changes: 2 additions & 2 deletions docs/Data/File_Formats/MAF_Format.md
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Expand Up @@ -135,7 +135,7 @@ The table below describes the columns in a protected MAF and their definitions.
|82 - EAS_MAF | Non-reference allele and frequency of existing variant in 1000 Genomes combined East Asian population |
|83 - EUR_MAF | Non-reference allele and frequency of existing variant in 1000 Genomes combined European population |
|84 - SAS_MAF | Non-reference allele and frequency of existing variant in 1000 Genomes combined South Asian population |
|85 - AA_MAF | Non-reference allele and frequency of existing variant in [NHLBI-ESP](https://esp.gs.washington.edu/drupal/) African American population |
|85 - AA_MAF | Non-reference allele and frequency of existing variant in [NHLBI-ESP](https://genome.ucsc.edu/cgi-bin/hgTables?db=hg19&hgta_group=varRep&hgta_track=evsEsp6500&hgta_table=evsEsp6500&hgta_doSchema=describe+table+schema) African American population |
|86 - EA_MAF | Non-reference allele and frequency of existing variant in NHLBI-ESP European American population|
|87 - CLIN_SIG | Clinical significance of variant from dbSNP as annotated in ClinVar |
|88 - SOMATIC |Somatic status of each ID reported under Existing_variation (0, 1, or null) |
Expand Down Expand Up @@ -194,7 +194,7 @@ The table below describes the columns in a protected MAF and their definitions.

### FILTER Value Definitions (column 111)

* __oxog :__ Signifies that this variant was determined to be an OxoG artifact. This was calculated with [D-ToxoG](https://software.broadinstitute.org/cancer/cga/dtoxog)
* __oxog :__ Signifies that this variant was determined to be an OxoG artifact. This was calculated with D-ToxoG.
* __bPcr :__ Signifies that this variant was determined to be an artifact of bias on the PCR template strand. This was calculated with the [DKFZ Bias Filter](https://github.com/eilslabs/DKFZBiasFilter).
* __bSeq :__ Signifies that this variant was determined to be an artifact of bias on the forward/reverse strand. This was also calculated with the [DKFZ Bias Filter](https://github.com/eilslabs/DKFZBiasFilter).

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2 changes: 1 addition & 1 deletion docs/Data_Dictionary/gdcmvs.md
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Expand Up @@ -41,7 +41,7 @@
</div>
<div class="ref-box">
<a href="https://ncit.nci.nih.gov/" class="ref-box__link" target="_blank">Search in NCIt</a>
<a href="https://cdebrowser.nci.nih.gov/cdebrowserClient/cdeBrowser.html#/search?programArea=0&contextId=2C8BAF10-7E19-B797-E050-BB89AD43619C"
<a href="https://cadsr.cancer.gov/onedata/Home.jsp"
class="ref-box__link" target="_blank">Search in caDSR</a>
</div>
</div>
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8 changes: 4 additions & 4 deletions docs/Data_Portal/Users_Guide/mutation_frequency.md
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Expand Up @@ -53,11 +53,11 @@ The summary section of the gene page contains the following information:
* __Description:__ A description of gene function and downstream consequences of gene alteration
* __Annotation:__ A notation/link that states whether the gene is part of [The Cancer Gene Census](http://cancer.sanger.ac.uk/census/)

__External References__
__External References__

A list with links that lead to external databases with additional information about each gene is displayed here. These external databases include: [Entrez](https://www.ncbi.nlm.nih.gov/gquery/), [Uniprot](http://www.uniprot.org/), [Hugo Gene Nomenclature Committee](http://www.genenames.org/), [Online Mendelian Inheritance in Man](https://www.omim.org/), [Ensembl](http://may2015.archive.ensembl.org/index.html), and [CIViC](https://civicdb.org/home).

__Cancer Distribution__
__Cancer Distribution__

A table and two bar graphs (one for mutations, one for CNV events) show how many cases are affected by mutations and CNV events within the gene as a ratio and percentage. Each row/bar represents the number of cases for each project. The final column in the table lists the number of unique mutations observed on the gene for each project.

Expand All @@ -77,7 +77,7 @@ A table is displayed below that lists information about each mutation including:
* __Consequences:__ The effects the mutation has on the gene coding for a protein (i.e. synonymous, missense, non-coding transcript)
* __# Affected Cases in Gene:__ The number of affected cases, expressed as number across all mutations within the Gene
* __# Affected Cases Across GDC:__ The number of affected cases, expressed as number across all projects. Choosing the arrow next to the percentage will expand the selection with a breakdown of each affected project.
* __Impact:__ A subjective classification of the severity of the variant consequence. This is determined using [Ensembl VEP](http://www.ensembl.org/info/genome/variation/predicted_data.html), [PolyPhen](http://genetics.bwh.harvard.edu/pph/), and [SIFT](http://sift.jcvi.org/). The categories are outlined [here](https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/#impact-categories).
* __Impact:__ A subjective classification of the severity of the variant consequence. This is determined using [Ensembl VEP](https://useast.ensembl.org/info/docs/tools/vep/index.html), [PolyPhen](http://genetics.bwh.harvard.edu/wiki/!pph2/about), and [SIFT](http://sift.jcvi.org/). The categories are outlined [here](https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/#impact-categories).

*Note: The Mutation UUID can be displayed in this table by selecting it from the Customize Columns button, represented by three parallel lines*

Expand Down Expand Up @@ -112,7 +112,7 @@ The fields that describe each consequence are listed below:
* __Coding DNA Change:__ The specific nucleotide change and position of the mutation within the gene
* __Impact:__ VEP, SIFT, and/or PolyPhen Impact ratings
* __Gene Strand:__ If the gene is located on the forward (+) or reverse (-) strand
* __Transcript:__ The transcript(s) affected by the mutation. Each contains a link to the [Ensembl](https://www.ensembl.org) entry for the transcript
* __Transcript:__ The transcript(s) affected by the mutation. Each contains a link to the [Ensembl](https://www.ensembl.org) entry for the transcript

__Cancer Distribution__

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2 changes: 1 addition & 1 deletion docs/Encyclopedia/pages/Annotations.md
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Expand Up @@ -7,7 +7,7 @@ Annotations are automatically downloaded in TSV format with impacted files when

For information on Annotation structure and content please review the [GDC Data Dictionary](/Data_Dictionary/viewer/#?view=table-definition-view&id=annotation)

For information about TCGA conventions for annotations please see the [TCGA Introduction to Annotations](Annotations_TCGA/).
For information about TCGA conventions for annotations please see the [TCGA Introduction to Annotations](/Encyclopedia/pages/Annotations_TCGA).

If a submitter would like to create an annotation, please contact the GDC Support Team ([email protected]).

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