Jianzhi Yang

VISTA improves structural variant detection by integrating multiple callers with a novel filtering algorithm, achieving high accuracy across various SV types and genomic contexts.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

This paper develops a scalable protocol for Oxford Nanopore long-read sequencing, achieving high SNP and structural variant detection with haplotype-resolved methylation calls, suitable for large-scale genomics projects.

TT-Mars evaluates structural variant calls by comparing them to haplotype-resolved assemblies, showing high accuracy and additional variant detection compared to existing methods.