Article

Junction-skipping regulation in complex disease

2019-10-16

Abstract excerpt

Multiple mRNA isoforms can be generated from a single gene locus through alternative splicing. Abnormality in alternative splicing has been linked to many human disorders. Here using RNA-seq data from 48 tissues from GTEx v7 release and summary statistics from GWAS of complex diseases and traits, we present a study to identify genomic variants regulating junction-skipping with the goal to understand their contribu...

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Literature Corpus work: 5fcc8656-a99c-5c26-b324-379f9f3886ac
DOI: 10.1101/804039

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