Resolving the CES1 Genomic Locus with Cas9-Directed Targeted Long-Read Sequencing for Precision Pharmacogenomics
Evangelia Lekka, Alisa Ambrodji, Alexander Nater, Ayoub Ballah, Ursula Amstutz, Alban Ramette, Carlo Rodolfo Largiadèr
This study uses long-read sequencing to resolve the complex CES1 genomic locus, identifying new haplotypes and structural variants, and highlighting issues with short-read sequencing artifacts.
bioRxiv · Dec 5, 2025 · PreprintGenetics