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Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins.


ABSTRACT: Identification of functional genetic variants and elucidation of their regulatory mechanisms represent significant challenges of the post-genomic era. A poorly understood topic is the involvement of genetic variants in mediating post-transcriptional RNA processing, including alternative splicing. Thus far, little is known about the genomic, evolutionary, and regulatory features of genetically modulated alternative splicing (GMAS). Here, we systematically identified intronic tag variants for genetic modulation of alternative splicing using RNA-seq data specific to cellular compartments. Combined with our previous method that identifies exonic tags for GMAS, this study yielded 622 GMAS exons. We observed that GMAS events are highly cell type independent, indicating that splicing-altering gen

SUBMITTER: Hsiao YH 

PROVIDER: S-EPMC4817768 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature