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
The third-generation sequencing-based approach termed CATSA showed great advantages compared to conventional genetic testing in carrier screening of thalassemia.
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.
