Concepedia

Genetic Variant Detection

Genetic Variant Detection is a nucleic acid amplification testing method that specifically identifies deviations from a reference genomic sequence, such as single nucleotide polymorphisms, insertions, deletions, or copy number variations, through targeted amplification and analysis of genetic material.

639

Publications

45.2K

Citations

4.7K

Authors

1.4K

Institutions

Publications per year

2017–2026

210

Parents

Publications

639

Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement

Bruce J. Walker, Thomas Abeel, Terrance Shea et al. · PLoS ONE · 2014 · 10.2K citations · Full text

, , +17

ClinGen — The Clinical Genome Resource

Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks et al. · New England Journal of Medicine · 2015 · 1.5K citations · Full text

, , +17

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Jennifer Saam, Christopher Arnell, Aaron Theisen et al. · Oncology · 2015 · 1.5K citations · Full text

, , +17

Cloning the Differences Between Two Complex Genomes

Natalya Lisitsyn, Michael Wigler · Science · 1993 · 1.3K citations

, , +17

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes.

Randall K. Saiki, P. Sean Walsh, C. Levenson · Proceedings of the National Academy of Sciences · 1989 · 1K citations · Full text

, , +16

1–5 of 639

Authors

4.7K

  1. VJ
    Vidhya Jagannathan

    University of Bern, Switzerland

    6 publications · 114 citations

    6

    h-index

  2. TL
    Tosso Leeb

    University of Bern, Switzerland

    6 publications · 114 citations

    6

    h-index

  3. JL
    Jishan Li

    Hunan University, China

    4 publications · 341 citations

    4

    h-index

  4. NH
    Nongyue He

    Southeast University, China

    3 publications · 85 citations

    3

    h-index

  5. AE
    Adam E. Locke

    University of Michigan, United States

    4 publications · 244 citations

    3

    h-index

1–5 of 4.7K

Institutions

1.4K

  1. Inserm

    Paris, France

    14 h-index

    81 publications

    3.7K citations

  2. Harvard University

    Cambridge, United States

    12 h-index

    45 publications

    3.1K citations

  3. University College London

    London, United Kingdom

    11 h-index

    28 publications

    3.4K citations

  4. University of California, San Francisco

    San Francisco, United States

    10 h-index

    32 publications

    4.8K citations

  5. Mayo Clinic

    Rochester, United States

    10 h-index

    35 publications

    2.8K citations

  6. Johns Hopkins University

    Baltimore, United States

    8 h-index

    22 publications

    596 citations

  7. University of Pennsylvania

    Philadelphia, United States

    8 h-index

    16 publications

    2.4K citations

  8. Broad Institute

    Cambridge, United States

    8 h-index

    44 publications

    115.1K citations

1–8 of 1.4K

Venues

  1. PubMed

    Repository · 27 publications · 1.6K citations

    17

    h-index

  2. Nucleic Acids Research

    19 publications · 942 citations

    16

    h-index

  3. Human Mutation

    17 publications · 1.1K citations

    15

    h-index

  4. Clinical Chemistry

    13 publications · 969 citations

    12

    h-index

  5. Electrophoresis

    11 publications · 380 citations

    11

    h-index

1–5