Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of...

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書目詳細資料
發表在:Genome Res
Main Authors: Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
格式: Artigo
語言:Inglês
出版: Cold Spring Harbor Laboratory Press 2015
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352885/
https://ncbi.nlm.nih.gov/pubmed/25637381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.183483.114
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