Article
Semantic prioritization of novel causative genomic variants.
PLoS computational biology - 1 Apr 2017
Boudellioua Imane, Mahamad Razali Rozaimi B, Kulmanov Maxat, Hashish Yasmeen, Bajic Vladimir B, Goncalves-Serra Eva, Schoenmakers Nadia, Gkoutos Georgios V, Schofield Paul N, Hoehndorf Robert
Abstract excerpt
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 approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.