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Chunk #16 — De novo identification of pathogenic cell types

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Systematic localization of common disease-associated variation in regulatory DNA.
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of the same cell type (Fig. 5). For all three studies, we observed enrichment of more weakly associated variants in regulatory DNA. This enrichment suggests that a large number of functional variants of small quantitative effect act through modulation of regulatory DNA. Additionally, it suggests that conditioning association analyses on regulatory DNA may ameliorate the stringent statistical correction for multiple testing required for genome-wide testing of unselected SNPs.