Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling.

Abstract excerpt

MOTIVATION: 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...

Topics

• Haplotypes
• Humans
• Software
• Sequence Analysis, DNA
• High-Throughput Nucleotide Sequencing
• Genotyping Techniques