Ontology highlight
ABSTRACT:
SUBMITTER: Papadimitriou S
PROVIDER: S-EPMC6575632 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20190524 24
Notwithstanding important advances in the context of single-variant pathogenicity identification, novel breakthroughs in discerning the origins of many rare diseases require methods able to identify more complex genetic models. We present here the Variant Combinations Pathogenicity Predictor (VarCoPP), a machine-learning approach that identifies pathogenic variant combinations in gene pairs (called digenic or bilocus variant combinations). We show that the results produced by this method are hig ...[more]