General

Session # 18, Abstract Program #82

 Gene-specific allele frequency thresholds for benign evidence to empower variant interpretation

•Allele frequency is typically used as evidence for variant pathogenicity, but current assessments are based on fixed or prevalence-adjusted thresholds which do not adequately discriminate benign and pathogenic missense variants for all genes.
•We developed a gene-specific allele frequency threshold approach that enabled us to assign benign evidence to more missense variants at a lower false classification rate than exiting methods.

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