Long-read human genome sequencing and its applications

• Update on the recommendations of the expert panel on epilepsy and genetics of the German Society of Epileptology (DGfE). English version

  2026 Clinical Epileptology article Medicine Epilepsy research and treatment

  0

  citations
• Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC1

  2026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  1

  citations
• Update zu Empfehlungen des Expertenpanels Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)

  2026 Clinical Epileptology article Medicine Epilepsy research and treatment Open access

  1

  citations
• Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing

  2026 Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  0

  citations
• Towards epigenetics in sugar beet – the ONT based reference 5mC methylome of Beta vulgaris ssp. vulgaris

  2026 Current Plant Biology article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  1

  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
• Maternal IGHG locus duplications impair infants’ passive immunity

  2025 medRxiv preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  0

  citations
• Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening

  2025 International Journal of Neonatal Screening article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access

  4

  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
• 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
• 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

14 results