Ontology highlight
ABSTRACT:
SUBMITTER: Lee Y
PROVIDER: S-EPMC5961815 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Lee Younghee Y Han Seonggyun S Kim Dongwook D Kim Dokyoon D Horgousluoglu Emrin E Risacher Shannon L SL Saykin Andrew J AJ Nho Kwangsik K
AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 20180518
Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products. We developed a splicing decision model to identify actionable loci among common SNPs for gene regulation. The splicing decision model identified SNPs affecting exon skipping by analyzing sequence-driven alternative splicing (AS) models and by scanning the genome for the regions with putative SRE motifs. We used non-Hispanic Ca ...[more]