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OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

An increasing number of disorders have been identified for which two or more distinct alleles in two or more genes are required to either cause the disease or to significantly modify its onset, severity or phenotype. It is difficult to discover such interactions using existing approaches. The purpos...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6168481/
https://ncbi.nlm.nih.gov/pubmed/30279426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-32876-3
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