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The impact of genet...
The impact of genetically controlled splicing on exon inclusion and protein structure
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- Einson, Jonah (författare)
- Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, United States of America; New York Genome Center, New York, NY, United States of America
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- Minaeva, Mariia (författare)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Rafi, Faiza (författare)
- New York Genome Center, New York, NY, United States of America; Department of Biotechnology, The City College of New York, New York, NY, United States of America
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- Lappalainen, Tuuli (författare)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,New York Genome Center, New York, NY, United States of America; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY, United States of America
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(creator_code:org_t)
- Public Library of Science (PLoS), 2024
- 2024
- Engelska.
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 19:3 March
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Common variants affecting mRNA splicing are typically identified though splicing quantitative trait locus (sQTL) mapping and have been shown to be enriched for GWAS signals by a similar degree to eQTLs. However, the specific splicing changes induced by these variants have been difficult to characterize, making it more complicated to analyze the effect size and direction of sQTLs, and to determine downstream splicing effects on protein structure. In this study, we catalogue sQTLs using exon percent spliced in (PSI) scores as a quantitative phenotype. PSI is an interpretable metric for identifying exon skipping events and has some advantages over other methods for quantifying splicing from short read RNA sequencing. In our set of sQTL variants, we find evidence of selective effects based on splicing effect size and effect direction, as well as exon symmetry. Additionally, we utilize AlphaFold2 to predict changes in protein structure associated with sQTLs overlapping GWAS traits, highlighting a potential new use-case for this technology for interpreting genetic effects on traits and disorders.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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