Concepedia

Long-read Variant Detection

Long-Read Variant Detection is a computational method in genomic analysis that identifies genetic variants from long-read sequencing data, distinguished by its ability to resolve complex and structural variations through the analysis of continuous, high-molecular-weight DNA sequences.

96

Publications

8.8K

Citations

843

Authors

326

Institutions

Publications per year

2017–2026

90

Parents

Publications

96

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger, Paul Peluso, William J. Rowell et al. · Nature Biotechnology · 2019 · 1.9K citations · Full text

, , +16

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

Tao Jiang, Yongzhuang Liu, Bo Liu et al. · Genome biology · 2020 · 455 citations · Full text

, , +16

SVIM: structural variant identification using mapped long reads

David N. Heller, Martin Vingron · Bioinformatics · 2019 · 417 citations · Full text

, , +17

Symphonizing pileup and full-alignment for deep learning-based long-read variant calling

Zhenxian Zheng, Shumin Li, Junhao Su et al. · Nature Computational Science · 2022 · 391 citations

, , +15

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

Kishwar Shafin, Trevor Pesout, Pi-Chuan Chang et al. · Nature Methods · 2021 · 325 citations · Full text

, , +13

1–5 of 96

Authors

843

  1. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    15 publications · 2.9K citations

    15

    h-index

  2. MM
    Medhat Mahmoud

    Baylor College of Medicine, United States

    8 publications · 2.3K citations

    8

    h-index

  3. MC
    Michael C. Schatz

    Johns Hopkins University, United States

    8 publications · 2.5K citations

    8

    h-index

  4. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    6 publications · 2.2K citations

    6

    h-index

  5. EE
    Evan E. Eichler

    University of Washington, United States

    6 publications · 617 citations

    6

    h-index

1–5 of 843

Institutions

326

  1. Baylor College of Medicine

    Houston, United States

    16 h-index

    41 publications

    6.8K citations

  2. Johns Hopkins University

    Baltimore, United States

    15 h-index

    33 publications

    6.8K citations

  3. Rice University

    Houston, United States

    9 h-index

    11 publications

    640 citations

  4. Pacific Biosciences (United States)

    Menlo Park, United States

    9 h-index

    40 publications

    19.9K citations

  5. University of Washington

    Seattle, United States

    8 h-index

    81 publications

    11.3K citations

  6. National Institute of Standards and Technology

    Gaithersburg, United States

    6 h-index

    14 publications

    4.4K citations

  7. Stanford University

    Stanford, United States

    6 h-index

    27 publications

    4.4K citations

  8. Howard Hughes Medical Institute

    Chevy Chase, United States

    6 h-index

    6 publications

    617 citations

1–8 of 326

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 16 publications · 727 citations

    15

    h-index

  2. Bioinformatics

    6 publications · 507 citations

    6

    h-index

  3. Nature Communications

    6 publications · 367 citations

    6

    h-index

  4. Genome biology

    6 publications · 836 citations

    6

    h-index

  5. Frontiers in Genetics

    4 publications · 99 citations

    4

    h-index

1–5