Article

Breaking the sparsity barrier in clinical targeted-panel sequencing: Mapping the inherited determinants of mutational signatures

2026-03-31

Abstract excerpt

<h4>Summary</h4> Cancer development is shaped by somatic mutational processes that leave characteristic patterns known as mutational signatures. The inherited determinants of variability in signature activity remain largely unknown. Common germline variants that regulate this activity, which we term Signature Quantitative Trait Loci (SigQTLs), are expected to have modest individual effects, requiring cohorts of t...

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Literature Corpus work: f835dcaf-3a28-5cff-a4f0-d31599d107a6
DOI: 10.64898/2026.03.29.714525

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