Chunk #71 — Online Methods — scRNA-seq analyses — Biological mechanisms explaining trans-eQTLs

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.

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To better understand the biological mechanisms underlying the trans-eQTLs, we performed a number of enrichment analyses. We converted trans-eQTLs to a gene-by-gene matrix via three methods: using Pascal27, using cis-eQTL information and combining both (Supplementary Note). For the enrichments, we calculated whether there was significant overlap with known TF–target pairs25 (www.RegulatoryCircuits.org), gene co-regulation patterns (Supplementary Note), PPIs26 (https://www.intomics.com/inbio/map/api/get_data?file=InBio_Map_core_2016_09_12.tar.gz) and Hi-C contacts in LCL cells28 using a two-sided Fisher’s exact test.