Genome wide discovery of genetic variants affecting alternative splicing patterns in human using bioinformatics method

다국어 초록 (Multilingual Abstract)

The alternative splicing pattern of transcription units can be influenced by the genotype of a neighboring locus, which is termed splicing quantitative trait locus (sQTL). Here we report a comprehensive catalog of sQTLs discovered from the public RNA-seq and matched genotype datasets of three European ancestries. Each pair of RNA-seq and genotype dataset was analyzed with IVAS, a locally developed R/Bioconductor package for sQTL discovery.
A meta-analysis was applied to the three result sets to reach a consensus of 2525 sQTLs (FDR\0.05). Among them, nine independent sQTLs overlapped the known signals in the catalog of genome-wide association studies.
Interestingly, six of these sQTLs are associated with the alternative exons, whose absence would hamper the protein function by omitting a critical/conserved domain. Altogether, we report the list of candidate sQTLs, and it might be useful for the explanations of trait-associated polymorphisms.

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