Research map: Length Matters: Toward the Clinical Adoption of Long-Read Sequencing

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Papers in this map

  1. The complete sequence of a human genome · Sergey Nurk · 2022 · 3481 citations · Cited by this paper
  2. Integrating Rapid Lymphoma Next-Generation Sequencing Panel-Based Testing into Routine Genomic Diagnostics · 2026 · Related
  3. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome · Aaron M. Wenger · 2019 · 2056 citations · Cited by this paper
  4. Progressive Decline in Interferon-γ Release is Associated with Cirrhosis Progression and Severity: A Prospective Preliminary Report · 2026 · Related
  5. Long-read human genome sequencing and its applications · Glennis A. Logsdon · 2020 · 1357 citations · Cited by this paper
  6. From Detection to Decision Support: Advancing AI-Assisted Serum Quality Assessment · 2026 · Related
  7. Tandem repeats mediating genetic plasticity in health and disease · Anthony John Hannan · 2018 · 515 citations · Cited by this paper
  8. Identification of Metabolic Biomarkers in Bone Marrow Aspirate for Diagnosis, Prognosis, and Therapeutic Monitoring in Pediatric Langerhans Cell Histiocytosis · 2026 · Related
  9. Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes · Wataru Nakamura · 2024 · 42 citations · Cited by this paper
  10. Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations · 2026 · Related
  11. Toward clinical long-read genome sequencing for rare diseases · Jesper Eisfeldt · 2025 · 40 citations · Cited by this paper
  12. Comparative Evaluation of the ASAP and GAAD Algorithms for Hepatocellular Carcinoma Detection in a Chronic Liver Disease Cohort in Korea · 2026 · Related
  13. The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases · Giulia F. Del Gobbo · 2025 · 38 citations · Cited by this paper
  14. Performance Evaluation of Whole-Genome Amplification Platforms for Clinical Next-Generation Sequencing with Minimal Nucleic Acid Input · 2025 · Related
  15. Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays · Jee‐Soo Lee · 2024 · 35 citations · Cited by this paper
  16. Tracing the evolution of sequencing into the era of genomic medicine · Elaine R. Mardis · 2025 · 18 citations · Cited by this paper
  17. Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities · Ann M. Moyer · 2025 · 11 citations · Cited by this paper
  18. Epidemiology of Nontyphoidal Salmonella Infections in Korean Children and Genetic Factors Associated with Extra-intestinal Invasion: A Whole-genome Sequencing Analysis · Hyun Mi Kang · 2025 · 8 citations · Cited by this paper
  19. Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy · Yeeun Shim · 2024 · 7 citations · Cited by this paper
  20. PacBio Third-Generation Sequencing Reveals an ABO Gene Promoter Mutation, c.–35_–18del, Leading to Weakened B Antigen Expression · Lin‐Nan Shao · 2024 · 6 citations · Cited by this paper
  21. Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases · Sung‐Soo Park · 2025 · 6 citations · Cited by this paper
  22. Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort · Silvia Caroselli · 2024 · 3 citations · Cited by this paper
  23. Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome · Robert J. M. Eveleigh · 2026 · 3 citations · Cited by this paper
  24. High-Resolution Eight-Digit Human Leukocyte Antigen-A, -B, -C, and -DRB1 Allele and Haplotype Frequencies in South Koreans Using Next-Generation Sequencing · Howon Lee · 2025 · 2 citations · Cited by this paper
  25. Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection · Eunju Yeom · 2026 · 2 citations · Cited by this paper
  26. Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Hyun‐Young Kim · 2025 · 2 citations · Cited by this paper

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