Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no large-scale study has yet estimated the number of expected actionable findings per individual; therefore, we classified actionable pathogenic s...

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Xehetasun bibliografikoak
Egile Nagusiak: Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2013
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791261/
https://ncbi.nlm.nih.gov/pubmed/24055113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.006
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