Ontology highlight
ABSTRACT:
SUBMITTER: Boudellioua I
PROVIDER: S-EPMC5411092 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Boudellioua Imane I Mahamad Razali Rozaimi B RB Kulmanov Maxat M Hashish Yasmeen Y Bajic Vladimir B VB Goncalves-Serra Eva E Schoenmakers Nadia N Gkoutos Georgios V GV Schofield Paul N PN Hoehndorf Robert R
PLoS computational biology 20170417 4
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 Variant Predictor (PVP) system that exploits semantic technologies and automated reason ...[more]