Article
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci.
Nature communications - 24 Aug 2022
Yamaguchi Kensuke, Ishigaki Kazuyoshi, Suzuki Akari, Tsuchida Yumi, Tsuchiya Haruka, Sumitomo Shuji, Nagafuchi Yasuo, Miya Fuyuki, Tsunoda Tatsuhiko, Shoda Hirofumi, Fujio Keishi, Yamamoto Kazuhiko, Kochi Yuta
Abstract excerpt
Splicing quantitative trait loci (sQTLs) are one of the major causal mechanisms in genome-wide association study (GWAS) loci, but their role in disease pathogenesis is poorly understood. One reason is the complexity of alternative splicing events producing many unknown isoforms. Here, we propose two approaches, namely integration and selection, for this complexity by focusing on protein-structure of isoforms....
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