A universal SNP and small-indel variant caller using deep neural networks

• Accelerating equitable cancer genomics and precision oncology in health care and research: a Lancet Oncology Commission

  2026 The Lancet Oncology article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  10

  citations
• Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

  2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway

  2025 GeroScience article Biochemistry, Genetics and Molecular Biology Genetics, Aging, and Longevity in Model Organisms Open access

  4

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• 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
• Deep-learning based representation and recognition for genome variants—from SNVs to structural variants

  2024 National Science Review article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access cited by 1 patent

  7

  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
• PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

  2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent

  82

  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
• PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  6

  citations
• Design and performance of a long-read sequencing panel for pharmacogenomics

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  2

  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
• Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle

  2021 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access cited by 1 patent

  38

  citations

14 results