Laughing child leaning back on woman's knee

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, et al. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. European Journal of Human Genetics. 2017. 25 (11) : 1268-1272.