Concepedia

Structural Variant Interpretation

Structural Variant Interpretation is the systematic analysis and classification of large-scale genomic alterations, such as deletions, duplications, inversions, and translocations, to determine their functional and clinical significance within the context of somatic variant biology.

61

Publications

4.2K

Citations

933

Authors

400

Institutions

Publications per year

2017–2026

32

Parents

Publications

61

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

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

Aaron R. Quinlan, Royden A. Clark, Svetlana Sokolova et al. · Genome Research · 2010 · 300 citations · Full text

, , +16

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Doruk Beyter, Helga Ingimundardóttir, Ásmundur Oddsson et al. · Nature Genetics · 2021 · 287 citations

, , +17

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

Ivan Rayment, Hazel M. Holden, James R. Sellers et al. · Proceedings of the National Academy of Sciences · 1995 · 225 citations · Full text

, , +13

De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling

Thorsten Schmidt, Sabine Rudnik‐Schöneborn, Michael Krawczak et al. · The American Journal of Human Genetics · 1997 · 178 citations · Full text

, , +17

1–5 of 61

Authors

933

  1. BJ
    Benjamin J. Raphael

    Princeton University, United States

    3 publications · 276 citations

    3

    h-index

  2. HB
    Harrison Brand

    Massachusetts General Hospital, United States

    2 publications · 1.2K citations

    2

    h-index

  3. AA
    Aaron A. Stence

    University of Iowa Hospitals and Clinics, United States

    2 publications · 63 citations

    2

    h-index

  4. PL
    Péter L. Nagy

    Columbia University, United States

    2 publications · 63 citations

    2

    h-index

  5. RL
    Ryan L. Collins

    Massachusetts General Hospital, United States

    3 publications · 2.4K citations

    2

    h-index

1–5 of 933

Institutions

400

  1. University College London

    London, United Kingdom

    6 h-index

    50 publications

    1.4K citations

  2. National Institutes of Health

    Bethesda, United States

    4 h-index

    17 publications

    3.2K citations

  3. National Center for Biotechnology Information

    Bethesda, United States

    3 h-index

    11 publications

    555 citations

  4. Mayo Clinic

    Rochester, United States

    3 h-index

    9 publications

    361 citations

  5. University of British Columbia

    Vancouver, Canada

    3 h-index

    15 publications

    1K citations

  6. Centre for Human Genetics

    Oxford, United Kingdom

    3 h-index

    7 publications

    1.3K citations

  7. University of Helsinki

    Helsinki, Finland

    3 h-index

    19 publications

    16.5K citations

  8. University of California San Diego

    San Diego, United States

    3 h-index

    7 publications

    3K citations

1–8 of 400

Venues

  1. Human Mutation

    4 publications · 165 citations

    4

    h-index

  2. Bioinformatics

    3 publications · 303 citations

    3

    h-index

  3. Journal of Human Genetics

    2 publications · 36 citations

    2

    h-index

  4. PLoS ONE

    2 publications · 69 citations

    2

    h-index

  5. F1000Research

    2 publications · 39 citations

    2

    h-index

1–5