Concepedia

Assembly-based Variant Detection

Assembly-Based Variant Detection is a computational method in structural variant analysis that identifies genomic alterations by reconstructing and comparing de novo assembled sequences to a reference genome, distinguishing itself from alignment-based approaches through its reliance on full sequence reconstruction rather than direct read mapping.

84

Publications

11.5K

Citations

575

Authors

255

Institutions

Publications per year

2017–2026

46

Parents

Publications

84

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

SyRI: finding genomic rearrangements and local sequence differences from whole-genome assemblies

Manish Goel, Hequan Sun, Wen‐Biao Jiao et al. · Genome biology · 2019 · 1.1K citations · Full text

, , +17

Using the miraEST Assembler for Reliable and Automated mRNA Transcript Assembly and SNP Detection in Sequenced ESTs

Bastien Chevreux, Thomas Pfisterer, Bernd Drescher et al. · Genome Research · 2004 · 1.1K citations · Full text

, , +17

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

Ernest T. Lam, Alex Hastie, Chin Jia Lin et al. · Nature Biotechnology · 2012 · 686 citations · Full text

, , +13

SvABA: genome-wide detection of structural variants and indels by local assembly

Jeremiah A. Wala, Pratiti Bandopadhayay, Noah F. Greenwald et al. · Genome Research · 2018 · 478 citations · Full text

, , +17

1–5 of 84

Authors

575

  1. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    4 publications · 2.2K citations

    4

    h-index

  2. XZ
    Xin Zhou

    Stanford University, United States

    4 publications · 93 citations

    4

    h-index

  3. RA
    Richard A. Gibbs

    Baylor College of Medicine, United States

    4 publications · 465 citations

    4

    h-index

  4. AC
    Adam C. English

    Baylor College of Medicine, United States

    4 publications · 617 citations

    4

    h-index

  5. PA
    Peter A. Audano

    University of Washington, United States

    3 publications · 251 citations

    3

    h-index

1–5 of 575

Institutions

255

  1. Harvard University

    Cambridge, United States

    7 h-index

    19 publications

    3.8K citations

  2. Baylor College of Medicine

    Houston, United States

    6 h-index

    47 publications

    10.2K citations

  3. Wellcome Sanger Institute

    Cambridge, United Kingdom

    5 h-index

    12 publications

    2K citations

  4. University of Copenhagen

    Copenhagen, Denmark

    4 h-index

    11 publications

    2.2K citations

  5. Johns Hopkins University

    Baltimore, United States

    4 h-index

    5 publications

    4.4K citations

  6. University of Cambridge

    Cambridge, United Kingdom

    4 h-index

    6 publications

    767 citations

  7. Vanderbilt University

    Nashville, United States

    4 h-index

    12 publications

    792 citations

  8. Broad Institute

    Cambridge, United States

    4 h-index

    32 publications

    7.3K citations

1–8 of 255

Venues

  1. Bioinformatics

    16 publications · 1.4K citations

    15

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 204 citations

    8

    h-index

  3. Nature Communications

    6 publications · 469 citations

    6

    h-index

  4. BMC Genomics

    6 publications · 275 citations

    6

    h-index

  5. Genome Research

    GR · 5 publications · 2.1K citations

    5

    h-index

1–5