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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444/
https://www.ncbi.nlm.nih.gov/pubmed/28794409
http://dx.doi.org/10.1038/s41467-017-00141-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444/
https://www.ncbi.nlm.nih.gov/pubmed/28794409
http://dx.doi.org/10.1038/s41467-017-00141-2

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