Article
Variant Interpretation: Functional Assays to the Rescue.
American journal of human genetics - 7 Sept 2017
Starita Lea M, Ahituv Nadav, Dunham Maitreya J, Kitzman Jacob O, Roth Frederick P, Seelig Georg, Shendure Jay, Fowler Douglas M
Abstract excerpt
Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many...
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