The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

ABSTRACT: Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly characterized. Here, we analyzed the genetic variability of 508 genes associated with AR disorders based on sequencing data from 141,456 individuals across seven ethnogeographic groups by integrating variants with documented pathogenicity from ClinVar, with stringent functionality predictions for variants with unknown pathogenicity. We first validated our model using 85 diseases for which population-specific prevalence data were available and found that our estimates strongly correlated with the respective clinically observed disease frequencies (r = 0.68; p < 0.0001). We found striking differences

SUBMITTER: Xiao Q 

PROVIDER: S-EPMC8172936 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature