Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate...

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Опубликовано в: :Am J Hum Genet
Главные авторы: Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2017
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473734/
https://ncbi.nlm.nih.gov/pubmed/28552198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.04.015
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