Comparative evaluation of genotyping and low-pass sequencing for pharmacogenetic variant and phenotype inference
Flavia Hodel, Christian Wandall Thorball, David Haefliger, Lorenzo Cerutti, Pietro Cattaneo, Cédric Howald, Katrin Männik, Roxane de La Harpe, Caroline Flora Samer, Ioannis Xénarios, Jacques Fellay, François R. Girardin
This study compares genotyping arrays and low-pass whole-genome sequencing for pharmacogenetic variant and phenotype inference, finding high concordance but improved variant coverage with LP-WGS.
medRxiv · Aug 19, 2026 · PreprintGenetic & Genomic Medicine