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README add a nice view of ASE per region
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adriaan-vd-graaf committed Sep 9, 2015
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Expand Up @@ -266,7 +266,7 @@ Please note that having two individuals in your analysis is usually not enough t
**\Warning**


## Additional features: Cell type specific Tests:
## Additional features (1): Cell type specific tests:

When your sequenced sample is a mixture of tissues (for instance when sequencing
blood samples), you may be interested in how allele specific expression is a
Expand Down Expand Up @@ -294,17 +294,72 @@ java -jar cellTypeSpecificAlleleSpecificExpression-1.0.2-SNAPSHOT-jar-with-depen
--minimum_hets 1 \
--minimum_reads 10\
--pheno_file Suzie-Peter-Phenotype.txt\
> PeterSuzieBinomialBetaBinomialOut.txt
> PeterSuzie_CTS_Out.txt
```

Results of the Cell type specific effects can be found in the results from the standard out and from the output.

**Warning**

Only 2 samples is very little information for the detection of CTS
effects, even more so than looking at non CTS ASE for itself.

**\Warning**

##Additional features(2): ASE per Region'

**Warning**

Only 2 samples is very little information for the detection of cell type specific
effects, even moreso than looking at ASE for itself..
This module is still under development and only sparsely tested, only non CTS effects are currently supported.

**\Warning**


The ASEperRegion sub-module can be used to determine the ASE effects per region to
increase statistical power by combining multiple SNPs in the same transcript or
_region_ and comparing them to some _test SNP_, as shown in the following scheme below:

```
## Fictitious example of ASE per region:
-----------------------some genomic region-----------------------
test SNP |///////////test region////////////|
X
region SNP #
1 2 3 4
Suzie: Het Het Het Het Hom
Allele 1: ~~~T~~~~~~~~~~~~|___A________T________G________C___|~~~~~~~~~~~~
Allele 2: ~~~C~~~~~~~~~~~~|___G________A________A________C___|~~~~~~~~~~~~
Peter: Het Het Hom Hom Hom
Allele 1: ~~~C~~~~~~~~~~~~|___A________A________G________A___|~~~~~~~~~~~~
Allele 2: ~~~T~~~~~~~~~~~~|___G________A________G________A___|~~~~~~~~~~~~
Walt: Hom Het Hom Het Het
Allele 1: ~~~C~~~~~~~~~~~~|___A________A________A________C___|~~~~~~~~~~~~
Allele 2: ~~~C~~~~~~~~~~~~|___G________A________G________A___|~~~~~~~~~~~~
Legend:
Het: Hetererozygote Hom: Homozygote
X: Position of the test SNP [A,G,T,C]: Base at SNP position
"~": Non SNP in test region "_": SNP in test region
```








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