Extended Data Fig. 8: Examples of dynamic sQTLs colocalization results. | Nature Genetics

Extended Data Fig. 8: Examples of dynamic sQTLs colocalization results.

From: Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases

Extended Data Fig. 8

(a) The first dynamic sQTL example involves rs6936285. rs6936285 shows a decreased effect on CD83 splicing during the B cell maturation and is highly colocalized with RA in naïve B cells. Unadjusted two-sided P value was calculated by QTLtools (right panel). Red lines in box plots indicate the effect trend of genotype on intron usage. (b) The second dynamic sQTL example of rs16971619, which inserts increased effect on BCL2A1 splicing. It is found to be colocalized with lymphocyte count. The box plots show median and interquartile range (IQR), and whiskers are 1.5-fold IQR. The samples sizes N for each quantile are: Q1(N = 419), Q2(N = 425), Q3(N = 427), Q4(N = 450), Q5(N = 448), Q6(N = 449). Unadjusted two-sided P value was calculated by QTLtools (right panel). Red lines in box plots indicate the effect trend of genotype on intron usage.

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