When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

MOTIVATION: Loss-of-function genetic variants are frequently associated with severe clinical phenotypes, yet many are present in the genomes of healthy individuals. The available methods to assess the impact of these variants rely primarily upon evolutionary conservation with little to no considerat...

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Détails bibliographiques
Publié dans:Bioinformatics
Auteurs principaux: Pagel, Kymberleigh A, Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N, Sebat, Jonathan, Iakoucheva, Lilia M, Mooney, Sean D, Radivojac, Predrag
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2017
Sujets:
Ismb/Eccb 2017: The 25th Annual Conference Intelligent Systems for Molecular Biology Held Jointly with the 16th Annual European Conference on Computational Biology, Prague, Czech Republic, July 21–25, 2017
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5870554/
https://ncbi.nlm.nih.gov/pubmed/28882004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx272
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