Article
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
PloS one - 1 Jan 2015
Olfson Emily, Cottrell Catherine E, Davidson Nicholas O, Gurnett Christina A, Heusel Jonathan W, Stitziel Nathan O, Chen Li-Shiun, Hartz Sarah, Nagarajan Rakesh, Saccone Nancy L, Bierut Laura J
Abstract excerpt
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample....
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