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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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Detalles Bibliográficos
Autores principales: Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168481/
https://www.ncbi.nlm.nih.gov/pubmed/30279426
http://dx.doi.org/10.1038/s41598-018-32876-3