Splicing quantitative trait loci

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

^ Wu, E.; Nance, T.; Montgomery, S. B. (April 1, 2014). "SplicePlot: a utility for visualizing splicing quantitative trait loci". Bioinformatics. 30 (7): 1025–1026. doi:10.1093/bioinformatics/btt733. ISSN 1367-4803.
^ Takata, Atsushi; Matsumoto, Naomichi; Kato, Tadafumi (April 2017). "Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci". Nature Communications. 8 (1). doi:10.1038/ncomms14519. ISSN 2041-1723.
^ Li, Yang I.; van de Geijn, Bryce; Raj, Anil; Knowles, David A.; Petti, Allegra A.; Golan, David; Gilad, Yoav; Pritchard, Jonathan K. (April 29, 2016). "RNA splicing is a primary link between genetic variation and disease". Science. 352 (6285): 600–604. doi:10.1126/science.aad9417. ISSN 0036-8075.
^ Ongen, Halit; Dermitzakis, Emmanouil T. (October 1, 2015). "Alternative Splicing QTLs in European and African Populations". The American Journal of Human Genetics. 97 (4): 567–575. doi:10.1016/j.ajhg.2015.09.004. PMC 4596912. PMID 26430802. {{cite journal}}: no-break space character in |first2= at position 10 (help)CS1 maint: PMC format (link)

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[1] Wu, E.; Nance, T.; Montgomery, S. B. (April 1, 2014). "SplicePlot: a utility for visualizing splicing quantitative trait loci". Bioinformatics. 30 (7): 1025–1026. doi:10.1093/bioinformatics/btt733. ISSN 1367-4803.

[2] Takata, Atsushi; Matsumoto, Naomichi; Kato, Tadafumi (April 2017). "Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci". Nature Communications. 8 (1). doi:10.1038/ncomms14519. ISSN 2041-1723.

[3] Li, Yang I.; van de Geijn, Bryce; Raj, Anil; Knowles, David A.; Petti, Allegra A.; Golan, David; Gilad, Yoav; Pritchard, Jonathan K. (April 29, 2016). "RNA splicing is a primary link between genetic variation and disease". Science. 352 (6285): 600–604. doi:10.1126/science.aad9417. ISSN 0036-8075.

[4] Ongen, Halit; Dermitzakis, Emmanouil T. (October 1, 2015). "Alternative Splicing QTLs in European and African Populations". The American Journal of Human Genetics. 97 (4): 567–575. doi:10.1016/j.ajhg.2015.09.004. PMC 4596912. PMID 26430802. {{cite journal}}: no-break space character in |first2= at position 10 (help)CS1 maint: PMC format (link)

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