RNA splicing mutations play major role in genetic variation and disease

RNA splicing is a major underlying factor that links mutations to complex traits and diseases, according to an exhaustive analysis of gene expression in whole genome and cell line data. Reporting in Science on April 29, 2016 researchers from the University of Chicago and Stanford University studied how thousands of mutations affect gene regulation in traits such as height, and diseases such as multiple sclerosis. The findings highlight the need for a better understanding of the role of RNA splicing on variation in complex traits and disease, and enable more accurate functional interpretations of genome-wide association study results.

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