Christopher Saunders

Aug 20, 2024 | biorxiv.org | Christopher Saunders |James Holt |Daniel Baker |Jonathan Belyeu

AbstractMotivation Structural variants (SVs) play an important role in evolutionary and functional genomics but are challenging to characterize. High-accuracy, long-read sequencing can substantially improve SV characterization when coupled with effective calling methods. While state-of the-art long-read SV callers are highly accurate, further improvements are achievable by systematically modeling local haplotypes during SV discovery and genotyping.