Question: ExAC includes WES of phenotyped population
gravatar for CY
5 weeks ago by
United States
CY90 wrote:

I have a question regarding ExAC.

I am trying to retrieve SNP with corresponding allele frequency for my own research. However, I noticed that ExAC dataset includes a fair amount of WES of phenotyped population including diabetes, Schizophrenia & Bipolar and Myocardial condition.

Wouldn't the SNP allele frequency be biased by these phenotyped population?

Also, ExAC states that they specifically excluded severe pediatric diseases. Why is this condition so special and has to be excluded?


snp exac population • 180 views
ADD COMMENTlink modified 5 weeks ago by Chris Miller19k • written 5 weeks ago by CY90

I don't know regarding the check for paediatric disease samples, but ExAC (rel. 0.3 onwards) does maintain 2 subsets - 1) excluding TCGA cohorts 2) excluding Pyschiatric cohorts

ADD REPLYlink written 5 weeks ago by Amitm1.4k
gravatar for singh.vijender
5 weeks ago by
singh.vijender20 wrote:

From my limited understanding, ExAC was created to have a reasonable comparison data set (Reference) for childhood-onset Mendelian diseases. It will make sense not to include individuals with severe pediatric diseases. SNP allele frequency will be biased to those SNPs which are associated with above phenotypes for others it should be fine.

ADD COMMENTlink written 5 weeks ago by singh.vijender20
gravatar for Chris Miller
5 weeks ago by
Chris Miller19k
Washington University in St. Louis, MO
Chris Miller19k wrote:

Sure - ExAC is useful for lots of things, but it is not designed to be a control for common disease studies. That requires sequencing a well-phenotyped cohort of individuals known to be negative for your trait of interest.

ADD COMMENTlink written 5 weeks ago by Chris Miller19k

Thanks for sharing. However, I think, as singh opinion, it could be a control for Mendelian diseases, especially with high penetrance, right?

ADD REPLYlink written 5 weeks ago by CY90
Please log in to add an answer.


Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 910 users visited in the last hour