Jump to content

Splicing quantitative trait loci

From Wikipedia, the free encyclopedia

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

[edit]
  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. Bibcode:2017NatCo...814519T. 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. Bibcode:2016Sci...352..600L. doi:10.1126/science.aad9417. PMC 5182069. 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.