To better understand the health implications of personal genomes, we now face a largely unmet challenge to identify functional variants within disease-associated genes. Functional variants can be iden
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational ap
Allele age estimated using GEVA on data from the 1000 Genomes Project (TGP), for variants annotated by PolyPhen-2 and SIFT (information available through Ensembl), across all autosomes.