RNA splicing mutations play major role in genetic variation and disease

Posted by on April 28, 2016 7:21 pm
Categories: Science

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. Researchers analyzed how thousands of mutations affect gene regulation in traits such as height, and diseases such as multiple sclerosis. The findings enable accurate functional interpretations of genome-wide association study results.

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