FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening

FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening

Subaran RL;Stewart WCL;;
human mutation 2020 pp. -
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. …

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