Pathogenic variants that alter protein code often disrupt splicing

The lack of tools to identify causative variants from sequencing data greatly limits the promise of Precision Medicine. Previous studies suggest one-third of disease alleles alter splicing. We discovered that splicing defects cluster in diseases (e.g. haploinsufficient genes). We analyzed 4,964 publ...

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Bibliographic Details
Published in:Nat Genet
Main Authors: Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G.
Format: Artigo
Language:Inglês
Published: 2017
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679692/
https://ncbi.nlm.nih.gov/pubmed/28416821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3837
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