Annotating pathogenic non-coding variants in genic regions

Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Tra...

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發表在:Nat Commun
Main Authors: Gelfman, Sahar, Wang, Quanli, McSweeney, K. Melodi, Ren, Zhong, La Carpia, Francesca, Halvorsen, Matt, Schoch, Kelly, Ratzon, Fanni, Heinzen, Erin L., Boland, Michael J., Petrovski, Slavé, Goldstein, David B.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2017
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5550444/
https://ncbi.nlm.nih.gov/pubmed/28794409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00141-2
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