Chunk #97 — Methods — Expression quantitative trait loci (eQTL) — Functional annotation of eQTLs — Overlap with the COSMIC genes

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Common genetic variation drives molecular heterogeneity in human iPSCs.

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To assess the overlap of iPSC eQTLs with known cancer genes in the context of somatic and cancerous tissues, we calculated the cumulative number of cancer genes (COSMIC cancer census 27/04/2016; Ngenes = 571 20) regulated by eQTLs in iPSCs, somatic tissues (GTEx V6p), and three different cancers (ER positive and negative breast cancer, colorectal cancer) 36,37 (Extended Data Fig. 9a).