Long-read-based human genomic structural variation detection with cuteSV

• Population-level structural variant characterization using pangenome graphs

  2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities cited by 1 patent

  4

  citations
• Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants

  2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism

  3

  citations
• Long and Accurate: How HiFi Sequencing is Transforming Genomics

  2025 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  28

  citations
• De novo and somatic structural variant discovery with SVision-pro

  2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent

  30

  citations
• Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

  2023 Genome biology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  12

  citations
• Comparison and benchmark of structural variants detected from long read and long-read assembly

  2023 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  15

  citations
• Additional file 1 of Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

  2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  0

  citations
• SVision: a deep learning approach to resolve complex structural variants

  2022 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent

  119

  citations
• Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  6

  citations
• Comparison and benchmark of long-read based structural variant detection strategies

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  4

  citations
• SVision: A deep learning approach to resolve complex structural variants

  2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  2

  citations

11 results