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Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

PURPOSE: In March 2013, the ACMG published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing should be reported to patients. As an initial step in determining the practical consequences of this recommendation in the...

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Detalles Bibliográficos
Autores principales: Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496331/
https://www.ncbi.nlm.nih.gov/pubmed/25569433
http://dx.doi.org/10.1038/gim.2014.196