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Splicing quantitative trait loci

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Splicing quantitative trait loci (abbreviated sQTLs or splicing QTLs) are quantitative trait loci that regulate alternative splicing of pre-mRNA. They can be detected using RNA-seq data.[1][2] Methods that have been developed to discover sQTLs include LeafCutter,[3] Altrans, Cufflinks, and MISO.[4]

References

  1. ^ Wu E, Nance T, Montgomery SB (April 2014). "SplicePlot: a utility for visualizing splicing quantitative trait loci". Bioinformatics. 30 (7): 1025–6. doi:10.1093/bioinformatics/btt733. PMC 3967110. PMID 24363378.
  2. ^ Takata A, Matsumoto N, Kato T (February 2017). "Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci". Nature Communications. 8 (1): 14519. doi:10.1038/ncomms14519. PMC 5333373. PMID 28240266.
  3. ^ Li YI, van de Geijn B, Raj A, Knowles DA, Petti AA, Golan D, et al. (April 2016). "RNA splicing is a primary link between genetic variation and disease". Science. 352 (6285): 600–4. doi:10.1126/science.aad9417. PMID 27126046.
  4. ^ Ongen H, Dermitzakis ET (October 2015). "Alternative Splicing QTLs in European and African Populations". American Journal of Human Genetics. 97 (4): 567–75. doi:10.1016/j.ajhg.2015.09.004. PMC 4596912. PMID 26430802.
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