Concepedia

Copy Number Variant Validation

Copy Number Variant Validation is a methodological process in genomic research that confirms the accuracy and reliability of inferred copy number variants by employing orthogonal experimental techniques or high-resolution analytical approaches to distinguish true biological variants from technical artifacts.

153

Publications

11.7K

Citations

1.5K

Authors

518

Institutions

Publications per year

2017–2026

66

Parents

Publications

153

Strong Association of De Novo Copy Number Mutations with Autism

Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra et al. · Science · 2007 · 2.8K citations · Full text

, , +17

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Alexej Abyzov, Alexander E. Urban, M Snyder et al. · Genome Research · 2011 · 1.8K citations · Full text

, , +17

Copy number variation of individual cattle genomes using next-generation sequencing

Derek M. Bickhart, Yali Hou, Steven Schroeder et al. · Genome Research · 2012 · 333 citations · Full text

, , +17

Analysis of copy number variations among diverse cattle breeds

George E. Liu, Yali Hou, Bin Zhu et al. · Genome Research · 2010 · 317 citations · Full text

, , +17

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Joseph Glessner, Alexander G. Bick, Kaoru Ito et al. · Circulation Research · 2014 · 277 citations

, , +17

1–5 of 153

Authors

1.5K

  1. HH
    Håkon Håkonarson

    Children's Hospital of Philadelphia, United States

    4 publications · 442 citations

    4

    h-index

  2. AE
    Alexander E. Urban

    Stanford University, United States

    3 publications · 2K citations

    4

    h-index

  3. GE
    George E. Liu

    Agricultural Research Service, United States

    4 publications · 766 citations

    4

    h-index

  4. TS
    Tad S. Sonstegard

    Agricultural Research Service, United States

    4 publications · 766 citations

    4

    h-index

  5. CP
    Curtis P. Van Tassell

    Agricultural Research Service, United States

    4 publications · 766 citations

    4

    h-index

1–5 of 1.5K

Institutions

518

  1. University of Washington

    Seattle, United States

    9 h-index

    57 publications

    92.7K citations

  2. Harvard University

    Cambridge, United States

    8 h-index

    43 publications

    9K citations

  3. China Agricultural University

    Beijing, China

    6 h-index

    21 publications

    1.1K citations

  4. Yale University

    New Haven, United States

    6 h-index

    41 publications

    12.6K citations

  5. University of Toronto

    Toronto, Canada

    5 h-index

    11 publications

    801 citations

  6. University of Pennsylvania

    Philadelphia, United States

    5 h-index

    51 publications

    9.6K citations

  7. Baylor College of Medicine

    Houston, United States

    4 h-index

    38 publications

    2.4K citations

  8. University College London

    London, United Kingdom

    4 h-index

    7 publications

    312 citations

1–8 of 518

Venues

  1. PLoS ONE

    10 publications · 376 citations

    10

    h-index

  2. BMC Genomics

    8 publications · 463 citations

    8

    h-index

  3. Journal of Molecular Diagnostics

    JMD · 6 publications · 506 citations

    7

    h-index

  4. Scientific Reports

    4 publications · 228 citations

    5

    h-index

  5. Genome Research

    GR · 5 publications · 2.7K citations

    5

    h-index

1–5