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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Detalles Bibliográficos
Autores principales: Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679692/
https://www.ncbi.nlm.nih.gov/pubmed/28416821
http://dx.doi.org/10.1038/ng.3837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679692/
https://www.ncbi.nlm.nih.gov/pubmed/28416821
http://dx.doi.org/10.1038/ng.3837

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