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

Abdullah Abood, Larry D. Mesner, Erin D. Jeffery, Mayank Murali, Micah Lehe, Jamie Saquing, Charles R. Farber, Gloria Sheynkman

2024The American Journal of Human Genetics20 citationsDOIOpen Access PDF

Topics & Concepts

Gene isoformBiologyAlternative splicingRNA splicingProteogenomicsProtein isoformGeneGene knockdownComputational biologyGeneticsIntronRNA-SeqRNAGene expressionTranscriptomeRNA modifications and cancerRNA Research and SplicingGenetic Associations and Epidemiology
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