Annotating pathogenic non-coding variants in genic regions

While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding geneti...

Full description

Bibliographic Details
Main Authors: Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein
Format: Article
Language:English
Published: Nature Publishing Group 2017-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-017-00141-2