Article
Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms.
Nature genetics - 1 Jun 2022
Grishin Dennis, Gusev Alexander
Abstract excerpt
While many germline cancer risk variants have been identified through genome-wide association studies (GWAS), the mechanisms by which these variants operate remain largely unknown. Here we used 406 cancer ATAC-Seq samples across 23 cancer types to identify 7,262 germline allele-specific accessibility QTLs (as-aQTLs). Cancer as-aQTLs had stronger enrichment for cancer risk heritability (up to 145 fold) than any...
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