Article

Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease

2023-03-21

Abstract excerpt

A major fraction of loci identified by genome-wide association studies (GWASs) lead to alterations in alternative splicing, but interpretation of how such alterations impact proteins is hindered by the technical limitations of short-read RNA-seq, which cannot directly link splicing events to full-length transcript or protein isoforms. Long-read RNA-seq represents a powerful tool to define and quantify transcript i...

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Literature Corpus work: e96b4bdc-a621-564e-87de-49257297ddfe
DOI: 10.1101/2023.03.17.531557

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