Variant interpretation: functional assays to the rescue
Journal: Starita LM, Ahituv N, Dunham MJ, Kitzman JO, et al. , (). Variant interpretation: functional assays to the rescue The American Journal of . ,
Abstract: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 …
URL: https://www.sciencedirect.com/science/article/pii/S0002929717302926
