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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Detalles Bibliográficos
Autores principales: Hu, Hao, Coon, Hilary, Li, Man, Yandell, Mark, Huff, Chad D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997702/
https://www.ncbi.nlm.nih.gov/pubmed/27562213
http://dx.doi.org/10.1186/s13073-016-0341-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997702/
https://www.ncbi.nlm.nih.gov/pubmed/27562213
http://dx.doi.org/10.1186/s13073-016-0341-9

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