Concepedia

Deletion Detection

Deletion Detection is a variant detection method in genome sequencing informatics that identifies loci where one or more nucleotides are absent in the sequenced genome relative to a reference genome, distinguishing it from other variant types by specifically recognizing contiguous sequence omissions.

168

Publications

9.8K

Citations

1.1K

Authors

403

Institutions

Publications per year

2017–2026

21

Variants

Deletion Calling

Parents

Publications

168

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

Alan H. Beggs, FrederickM. Boyce, LouisM. Kunkel · Human Genetics · 1990 · 695 citations

, , +14

What's hot and what's not: tracking most frequent items dynamically

Graham Cormode, S. Muthukrishnan · ACM Transactions on Database Systems · 2005 · 553 citations

, , +13

A robust benchmark for detection of germline large deletions and insertions

Justin M. Zook, Nancy F. Hansen, Nathan D. Olson et al. · Nature Biotechnology · 2020 · 483 citations · Full text

, , +12

Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions

Carin V. Hopps · Human Reproduction · 2003 · 415 citations

, , +14

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

Ronald J. Wapner, Joshua Babiarz, Brynn Levy et al. · American Journal of Obstetrics and Gynecology · 2014 · 336 citations

, , +17

1–5 of 168

Authors

1.1K

  1. CT
    C. Thomas Caskey

    Baylor College of Medicine, United States

    5 publications · 507 citations

    4

    h-index

  2. PN
    Peter N. Ray

    Hospital for Sick Children, Canada

    4 publications · 151 citations

    4

    h-index

  3. BZ
    Bernhard Zimmermann

    Natera (United States), United States

    3 publications · 501 citations

    3

    h-index

  4. RW
    Rosanna Weksberg

    Hospital for Sick Children, Canada

    3 publications · 76 citations

    3

    h-index

  5. MH
    Madhuri Hegde

    Emory University, United States

    2 publications · 60 citations

    2

    h-index

1–5 of 1.1K

Institutions

403

  1. Baylor College of Medicine

    Houston, United States

    9 h-index

    31 publications

    2.6K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    5 h-index

    12 publications

    4.1K citations

  3. Harvard University

    Cambridge, United States

    5 h-index

    14 publications

    3.6K citations

  4. University of California, San Francisco

    San Francisco, United States

    4 h-index

    13 publications

    780 citations

  5. University of Toronto

    Toronto, Canada

    4 h-index

    24 publications

    723 citations

  6. Hospital for Sick Children

    Toronto, Canada

    4 h-index

    30 publications

    889 citations

  7. University of Southern California

    Los Angeles, United States

    4 h-index

    7 publications

    744 citations

  8. Children's Hospital of Philadelphia

    Philadelphia, United States

    4 h-index

    7 publications

    341 citations

1–8 of 403

Venues

  1. Genes Chromosomes and Cancer

    10 publications · 576 citations

    10

    h-index

  2. PubMed

    Repository · 9 publications · 283 citations

    9

    h-index

  3. Human Mutation

    6 publications · 271 citations

    6

    h-index

  4. American Journal of Medical Genetics

    5 publications · 166 citations

    5

    h-index

  5. Bioinformatics

    4 publications · 146 citations

    4

    h-index

1–5