The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
Jennifer J. Johnston, Marie‐Luise Brennan, Bailey Radenbaugh, Seeley Yoo, Sophia M. Hernandez, Katie L. Lewis, Alexander Katz, Teri A. Manolio, Leslie G. Biesecker
Topics & Concepts
Medical geneticsExome sequencingExomeGeneticsCohortMedicineBiologyGeneInternal medicineMutationGenomics and Rare DiseasesGenetic Associations and EpidemiologyHereditary Neurological Disorders