Article

Splicing QTL analysis focusing on coding sequences reveals pathogenicity of disease susceptibility loci

2022-01-03

Abstract excerpt

Splicing QTL (sQTL) are one of the major causal mechanisms in GWAS loci, but their role in disease pathogenesis is poorly understood. One reason is the huge complexity of alternative splicing events producing many unknown isoforms. Here, we proposed two novel approaches, namely integration and selection, for this complexity by focusing on protein-structure of isoforms. First, we integrated isoforms with the same c...

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Literature Corpus work: 4d420020-33ef-575c-a2d5-bb73eb68a28c
DOI: 10.1101/2021.12.30.474578

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