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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001/
https://www.ncbi.nlm.nih.gov/pubmed/24784157
http://dx.doi.org/10.1038/gim.2014.29

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001/
https://www.ncbi.nlm.nih.gov/pubmed/24784157
http://dx.doi.org/10.1038/gim.2014.29

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