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. Author manuscript; available in PMC: 2018 Jun 11.
Published in final edited form as: Nat Genet. 2017 Dec 11;50(1):54–61. doi: 10.1038/s41588-017-0005-8

Figure 4. Splicing QTLs overlapping GWAS.

Figure 4

(a) An sQTL for TNFRSF1A leads to skipping of exon 6, and overlaps with a multiple sclerosis association. (b) An sQTL for SIPA1L2 leads to increased skipping of an unannotated exon between alternative promoters, and overlaps with a Parkinson’s disease association. (c) An sQTL for APOPT1 alters skipping of exons 2 and 3, and overlaps with a schizophrenia association. P values are from the FastQTL beta approximation based on 10,000 permutations. Boxplots show the median, 25th and 75th percentiles, with whiskers extending 1.5 times the interquartile range.

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