The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

PURPOSE: Using exome sequence data from 159 families participating in the NIH Undiagnosed Diseases Program, we evaluated the number and inheritance of reportable incidental sequence variants. METHODS: Following the ACMG recommendations for reporting of incidental next generation sequencing findings,...

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Detalhes bibliográficos
Main Authors: Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R, Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, Tifft, Cynthia, Toro, Camilo, Wahl, Colleen, Wolfe, Lynne, Gahl, William A., Boerkoel, Cornelius F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190001/
https://ncbi.nlm.nih.gov/pubmed/24784157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.29
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