Concepedia

Copy Number Alterations

Copy Number Alterations is a type of genomic structural variation in which contiguous segments of DNA, ranging from focal regions to whole chromosomal arms or entire chromosomes, undergo gains or losses in copy number relative to the normal diploid state, thereby altering local gene dosage.

1.6K

Publications

154.2K

Citations

12.7K

Authors

2.6K

Institutions

Publications per year

2017–2026

329

Variants

CnasCnvsCopy Number Variations

Parents

Children

Publications

1.6K

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text

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The landscape of somatic copy-number alteration across human cancers

Rameen Beroukhim, Craig H. Mermel, Dale Porter et al. · Nature · 2010 · 4.1K citations · Full text

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GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers

Craig H. Mermel, Steven E. Schumacher, Barbara Hill et al. · Genome biology · 2011 · 3.9K citations · Full text

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Circular binary segmentation for the analysis of array-based DNA copy number data

Adam B. Olshen, E. S. Venkatraman, R. Lucito et al. · Biostatistics · 2004 · 2.4K citations

, , +14

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Eric Talevich, A. Hunter Shain, Thomas Botton et al. · PLoS Computational Biology · 2016 · 2.3K citations · Full text

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1–5 of 1.6K

Authors

12.7K

  1. SK
    Sakari Knuutila

    University of Helsinki, Finland

    30 publications · 1.9K citations

    22

    h-index

  2. EE
    Evan E. Eichler

    University of Washington, United States

    21 publications · 8.8K citations

    21

    h-index

  3. JR
    James R. Lupski

    Baylor College of Medicine, United States

    23 publications · 2.5K citations

    21

    h-index

  4. SW
    Sau Wai Cheung

    Baylor College of Medicine, United States

    18 publications · 1.6K citations

    18

    h-index

  5. PS
    Paweł Stankiewicz

    Baylor College of Medicine, United States

    17 publications · 1.5K citations

    16

    h-index

1–5 of 12.7K

Institutions

2.6K

  1. Harvard University

    Cambridge, United States

    52 h-index

    335 publications

    142.5K citations

  2. Baylor College of Medicine

    Houston, United States

    36 h-index

    308 publications

    61K citations

  3. Inserm

    Paris, France

    36 h-index

    271 publications

    35.9K citations

  4. University of California, San Francisco

    San Francisco, United States

    36 h-index

    197 publications

    67.5K citations

  5. University of Washington

    Seattle, United States

    34 h-index

    194 publications

    59.5K citations

  6. Broad Institute

    Cambridge, United States

    33 h-index

    358 publications

    408.8K citations

  7. Wellcome Sanger Institute

    Cambridge, United Kingdom

    32 h-index

    270 publications

    210.8K citations

  8. Howard Hughes Medical Institute

    Chevy Chase, United States

    32 h-index

    78 publications

    30.2K citations

1–8 of 2.6K

Venues

  1. The American Journal of Human Genetics

    AJHG · 37 publications · 6.1K citations

    32

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 38 publications · 6.6K citations

    32

    h-index

  3. Bioinformatics

    55 publications · 4.7K citations

    31

    h-index

  4. PubMed

    Repository · 45 publications · 4.3K citations

    29

    h-index

  5. PLoS ONE

    50 publications · 2.6K citations

    29

    h-index

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