Concepedia

Structural Variant Resolution

Structural Variant Resolution is the systematic identification and precise characterization of large-scale genomic alterations, such as insertions, deletions, inversions, and translocations, distinguished by its reliance on long-read sequencing technologies to accurately span repetitive regions and complex loci that confound short-read assembly methods.

35

Publications

3.6K

Citations

368

Authors

145

Institutions

Publications per year

2017–2026

23

Parents

Publications

35

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Peter Ebert, Peter A. Audano, Qihui Zhu et al. · Science · 2021 · 804 citations · Full text

, , +17

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens et al. · Nature Communications · 2017 · 440 citations · Full text

, , +17

Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery

Fereydoun Hormozdiari, Iman Hajirasouliha, Phuong Dao et al. · Bioinformatics · 2010 · 221 citations · Full text

, , +17

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French et al. · Genome Medicine · 2018 · 200 citations · Full text

, , +17

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

Hugo Y. K. Lam, Xinmeng Jasmine Mu, Adrian M. Stütz et al. · Nature Biotechnology · 2009 · 197 citations · Full text

, , +16

1–5 of 35

Authors

368

  1. EE
    Evan E. Eichler

    University of Washington, United States

    5 publications · 1.2K citations

    5

    h-index

  2. PA
    Peter A. Audano

    University of Washington, United States

    5 publications · 1.1K citations

    5

    h-index

  3. TM
    Tobias Marschall

    Heinrich Heine University Düsseldorf, Germany

    4 publications · 1.4K citations

    4

    h-index

  4. ME
    Michael E. Talkowski

    Massachusetts General Hospital, United States

    4 publications · 1.3K citations

    4

    h-index

  5. MG
    Mark Gerstein

    Yale University, United States

    3 publications · 1.2K citations

    3

    h-index

1–5 of 368

Institutions

145

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    5 h-index

    14 publications

    2.8K citations

  2. University of Washington

    Seattle, United States

    5 h-index

    23 publications

    8.6K citations

  3. Jackson Laboratory

    Bar Harbor, United States

    5 h-index

    33 publications

    4.5K citations

  4. Harvard University

    Cambridge, United States

    5 h-index

    14 publications

    3.1K citations

  5. Saarland University

    Saarbrücken, Germany

    4 h-index

    5 publications

    1.3K citations

  6. Max Planck Institute for Informatics

    Saarbrücken, Germany

    4 h-index

    4 publications

    1.3K citations

  7. Massachusetts General Hospital

    Boston, United States

    4 h-index

    7 publications

    3K citations

  8. Material Measurement Laboratory

    Gaithersburg, United States

    3 h-index

    8 publications

    226 citations

1–8 of 145

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 173 citations

    8

    h-index

  2. Nature Communications

    3 publications · 577 citations

    3

    h-index

  3. Nature Methods

    3 publications · 289 citations

    3

    h-index

  4. Genome Research

    GR · 2 publications · 165 citations

    2

    h-index

  5. BMC Genomics

    2 publications · 49 citations

    2

    h-index

1–5