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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Genome- and exome-sequencing costs are continuing to fall, and many individuals are undergoing these assessments as research participants and patients. The issue of secondary (so-called incidental) findings in exome analysis is controversial, and data are needed on methods of detection and their fre...

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Detalles Bibliográficos
Main Authors: Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397257/
https://ncbi.nlm.nih.gov/pubmed/22703879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.021
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