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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Autores principales: 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
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea: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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