Concepedia

Structural Variant Classification

Structural Variant Classification is a computational method in genomics that categorizes structural variants based on their molecular characteristics, genomic impact, and biological significance, distinguishing it from other variant analysis approaches by its focus on large-scale genomic alterations such as deletions, duplications, inversions, and translocations.

33

Publications

6.5K

Citations

438

Authors

239

Institutions

Publications per year

2017–2026

17

Parents

Publications

33

An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text

, , +17

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

, , +16

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 606 citations · Full text

, , +14

SCOPe: improvements to the structural classification of proteins – extended database to facilitate variant interpretation and machine learning

John‐Marc Chandonia, Lindsey Guan, Shiangyi Lin et al. · Nucleic Acids Research · 2021 · 205 citations · Full text

, , +15

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 33

Authors

438

  1. HY
    Hugo Y. K. Lam

    Yale University, United States

    3 publications · 3K citations

    3

    h-index

  2. AB
    Ali Bashir

    Icahn School of Medicine at Mount Sinai, United States

    2 publications · 2.8K citations

    2

    h-index

  3. XJ
    Xinmeng Jasmine Mu

    Yale University, United States

    2 publications · 2.9K citations

    2

    h-index

  4. MG
    Mark Gerstein

    Yale University, United States

    2 publications · 2.9K citations

    2

    h-index

  5. BJ
    Benjamin J. Raphael

    Princeton University, United States

    2 publications · 199 citations

    2

    h-index

1–5 of 438

Institutions

239

  1. University of Michigan

    Ann Arbor, United States

    5 h-index

    13 publications

    13.3K citations

  2. National Institutes of Health

    Bethesda, United States

    5 h-index

    8 publications

    6K citations

  3. Harvard University

    Cambridge, United States

    4 h-index

    36 publications

    44.9K citations

  4. National Human Genome Research Institute

    Bethesda, United States

    4 h-index

    5 publications

    5.6K citations

  5. European Bioinformatics Institute

    Cambridge, United Kingdom

    3 h-index

    8 publications

    17.3K citations

  6. University of California San Diego

    San Diego, United States

    3 h-index

    10 publications

    13.7K citations

  7. Vanderbilt University Medical Center

    Nashville, United States

    2 h-index

    3 publications

    2.4K citations

  8. Brown University

    Providence, United States

    2 h-index

    5 publications

    712 citations

1–8 of 239

Venues

  1. BMC Genomics

    2 publications · 172 citations

    2

    h-index

  2. Nucleic Acids Research

    2 publications · 322 citations

    2

    h-index

  3. Nature

    2 publications · 3.8K citations

    2

    h-index

  4. Genetics in Medicine

    GIM · 2 publications · 625 citations

    2

    h-index

  5. BMC Bioinformatics

    2 publications · 51 citations

    2

    h-index

1–5