A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

PURPOSE: Develop an automated exome analysis workflow that can produce a very small number of candidate variants yet still detect different numbers of deleterious variants between probands and unaffected siblings. METHODS: 97 outbred nuclear families from the Undiagnosed Diseases Program/ Network in...

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Detalles Bibliográficos
Autores principales: Gu, Fangning, Wu, Anchi, Gordon, M. Grace, Vlahos, Lukas, Macnamara, Shane, Burke, Elizabeth, Malicdan, May C, Adams, David R, Tifft, Cynthia J, Toro, Camilo, Gahl, William A, Markello, Thomas C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106/
https://www.ncbi.nlm.nih.gov/pubmed/30700791
http://dx.doi.org/10.1038/s41436-019-0434-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106/
https://www.ncbi.nlm.nih.gov/pubmed/30700791
http://dx.doi.org/10.1038/s41436-019-0434-0

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