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VARPRISM: incorporating variant prioritization in tests of de novo mutation association

BACKGROUND: Patients with certain genetic diseases, such as autism spectrum disorder, have increased rates of de novo mutations within some protein-coding genes. RESULTS: We introduce the VARiant PRIoritization SuM (VARPRISM), a software package which incorporates functional variant prioritization i...

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Publicado en:Genome Med
Main Authors: Hu, Hao, Coon, Hilary, Li, Man, Yandell, Mark, Huff, Chad D.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4997702/
https://ncbi.nlm.nih.gov/pubmed/27562213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0341-9
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