SegmentQTL: Identifying genetic variants influencing molecular phenotypes in copy number-driven cancers
Samuel Leppiniemi, Daria Afenteva, Yilin Li, Giulia Micoli, Kari Lavikka, Susanna Holmström, Déborah Boyenval, Jaana Oikkonen, Sampsa Hautaniemi, Taru Muranen
SegmentQTL improves molQTL analysis in copy number-driven cancers by incorporating breakpoint information to reduce false discoveries and refine associations.
bioRxiv · Jul 28, 2025 · PreprintBioinformatics