Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

@JamesRPriestMD @Bmhelm @MWheelerMD @KylaDunn5 @uk_biobank @exac_exomes That’s certainly higher than we would expect for a reasonably penetrant pathogenic variant, right? Assuming you agree with using 0.01% as a reasonable max for non-founders based on htt

RT @GenomeMedicine: Pathogenic variant burden in the #ExAC database: an empirical approach to evaluating population data for clinical varia…

RT @GenomeMedicine: Pathogenic variant burden in the #ExAC database: an empirical approach to evaluating population data for clinical varia…

Pathogenic variant burden in the #ExAC database: an empirical approach to evaluating population data for clinical variant interpretation https://t.co/cnCWwrEjxa #RareDiseaseDay https://t.co/hOhyL08id4