FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening
Subaran RL;Stewart WCL;;
human mutation2020pp. -
127
rl2020humanfreqmax
Abstract
As whole-genome data become available for increasing numbers of individuals across diverse populations, the list of genomic variants of unknown significance (VOUS) continues to grow. One powerful tool in VOUS interpretation is determining whether an allele is too common to be considered pathogenic. …