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Chunk #27 — 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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only a small number of cell-specific eQTLs were identified with multiple testing correction, our results can still be useful in prioritizing cell types for follow-up experiments based on the observation that suggestive cell-type specific eQTL genes show clear cell type preferences. Many of these “top” cell-specific eQTL genes tend to conform to the expected function of the implicated cell. For example, the MGMT locus harbors an eQTL that ranks among the top 3 for oligodendrocytes-specificity (p=1.5x10−4). MGMT is known to play a role in oligodendrocyte function, and its mutations are associated with oligodendrogliomas. These cell-specific results are intriguing but require molecular validation using purified cell populations from the cortex with matched genotypes to be confirmed.