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odelaneau / GLIMPSE

Low Coverage Calling of Genotypes
MIT License
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Question: WGS data of Epilepsy patients #113

Closed robertzeibich closed 1 year ago

robertzeibich commented 2 years ago

I have downsampled WGS data of Epilepsy patients from 30x to 10x. By just looking at pathogenic and likely pathogenic variants, I noticed a difference of 4 for seed1 and 5 for seed2. The gnomAD scores for these variants is below 0.01. Do you think that I can impute these missing pathogenic and likely pathogenic variants using GLIMPSE? Is there something I need to consider?

Help would be much appreciated.

srubinacci commented 1 year ago

Hi, Please feel free to reach us using our email addresses. This is usually used to ask assistance with the software.