Concepedia

Copy Number Variation Testing

Copy Number Variation Testing is a genomic analysis method that identifies deviations in the number of copies of a particular DNA segment within an individual's genome, enabling the detection of gene duplications or deletions relevant to pharmacogenetic responses.

59

Publications

5.3K

Citations

495

Authors

167

Institutions

Publications per year

2017–2026

22

Variants

Cnv Testing

Parents

Publications

59

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

Benjamin J. Hindson, Kevin D. Ness, Donald A Masquelier et al. · Analytical Chemistry · 2011 · 2.8K citations · Full text

, , +17

A robust statistical method for case-control association testing with copy number variation

C. Barnes, Vincent Plagnol, Tomas Fitzgerald et al. · Nature Genetics · 2008 · 183 citations · Full text

, , +15

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

Desheng Liang, Ying Peng, Weigang Lv et al. · Journal of Molecular Diagnostics · 2014 · 172 citations

, , +17

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats

John A.L. Armour, Roberta Palla, Patrick L.J.M. Zeeuwen et al. · Nucleic Acids Research · 2006 · 137 citations · Full text

, , +15

The screening and ranking algorithm to detect DNA copy number variations

Yue Niu, Heping Zhang · The Annals of Applied Statistics · 2012 · 131 citations · Full text

, , +16

1–5 of 59

Authors

495

  1. JA
    John A.L. Armour

    University of Nottingham, United Kingdom

    3 publications · 201 citations

    3

    h-index

  2. EJ
    Edward J. Hollox

    University of Leicester, United Kingdom

    3 publications · 174 citations

    3

    h-index

  3. DS
    David S. Cram

    Berry Oncology (China), China

    2 publications · 183 citations

    2

    h-index

  4. JS
    Joost Schalkwijk

    Radboud University Nijmegen, Netherlands

    2 publications · 174 citations

    2

    h-index

  5. SW
    Susan Walker

    University of Toronto, Canada

    2 publications · 126 citations

    2

    h-index

1–5 of 495

Institutions

167

  1. Wellcome Sanger Institute

    Cambridge, United Kingdom

    4 h-index

    11 publications

    1K citations

  2. Radboud University Nijmegen

    Nijmegen, The Netherlands

    2 h-index

    4 publications

    448 citations

  3. Peking Union Medical College Hospital

    Beijing, China

    2 h-index

    6 publications

    70 citations

  4. University of Oxford

    Oxford, United Kingdom

    2 h-index

    5 publications

    339 citations

  5. University of Nottingham

    Nottingham, United Kingdom

    2 h-index

    4 publications

    248 citations

  6. MRC Holland (Netherlands)

    Amsterdam, Netherlands

    2 h-index

    4 publications

    192 citations

  7. Berry Oncology (China)

    Fuzhou, China

    2 h-index

    5 publications

    699 citations

  8. KU Leuven

    Leuven, Belgium

    2 h-index

    15 publications

    306 citations

1–8 of 167

Venues

  1. PLoS ONE

    5 publications · 141 citations

    5

    h-index

  2. Prenatal Diagnosis

    3 publications · 58 citations

    3

    h-index

  3. Nucleic Acids Research

    3 publications · 258 citations

    3

    h-index

  4. Human Mutation

    2 publications · 128 citations

    2

    h-index

  5. Current Protocols in Human Genetics

    2 publications · 100 citations

    2

    h-index

1–5