Deciphering the impact of genetic variation on human polyadenylation using APARENT2.
Johannes LinderSamantha E KoplikAnshul KundajeGeorg SeeligPublished in: Genome biology (2022)
A sequence-to-function model based on deep residual learning enables accurate functional interpretation of genetic variants in polyadenylation signals and, when coupled with large human variation databases, elucidates the link between functional 3'-end mutations and human health.