Semantic prioritization of novel causative genomic variants.

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 fea...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science (PLoS) 2017-04-01
Schriftenreihe:PLoS Computational Biology
Online Zugang:https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1005500&type=printable
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge