Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Kevin M BowlingMichelle L ThompsonDavid E GrayJames M J LawlorKelly WilliamsKelly M EastWhitley V KelleyIrene P MossDevin M AbsherE Christopher PartridgeAnna C E HurstJeffrey C EdbergGregory S BarshBruce R KorfGregory M CooperPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
In AGHI, we have implemented an array-based process to screen for highly penetrant genetic variants in actionable disease genes. We demonstrate the need for clinical validation of array-identified variants in direct-to-consumer or population testing, especially for diverse populations.