Genetics & Genomics
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Abstract:
Alternative tandem transcription initiation (ATI) is a pervasive mechanism of gene regulation, yet its genetic impact on human disease remains largely unknown. Here, we systematically quantified genetic regulation of ATI across 25,859 samples from 49 human normal tissues and 33 tumor tissues. We identified ~0.4 million 5′ UTR ATI quantitative trait loci (5′aQTLs) in 5,295 genes, with 32%...