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Chunk #25 — Results — Accelerating the transition to functional studies in specific cell types

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An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome.
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Selection of the relevant cell type to target for in vitro or in vivo follow-up functional studies is challenging since our xQTLs, like those identified in many other studies, rely on tissue profiles generated from a complex mixture of cell types. To help prioritize cell types for such follow-up efforts, we repeated the analyses relating each SNP to a given molecular feature but additionally included a variable that estimates the proportion of a cell type in the profiled tissue and an interaction term to identify those SNPs whose effects depend on the proportion of a target cell (Supplementary Information). This approach was recently validated using whole-blood data43.