caQTL paper published in Nature Neuroscience

After many years of work, we published our cell-type specific chromatin accessibility paper in Nature Neuroscience. There were some interesting things we found: (1) caQTLs are highly cell-type specific, (2) caQTLs have higher effect sizes on average than eQTLs, (3) caQTLs can be used to identify causal variants, cell types, and mechanisms of non-coding GWAS loci. As an example, here is a locus associated with risk for schizophrenia near the GRIN2A gene where we show co-localization with a neuron-specific caQTL and allele specific chromatin accessibility, and experimentally validate the result with a luciferase assay. You can read the article here.

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