Concepedia

Small Deletion Detection

Small Deletion Detection is a variant calling method that identifies deletions of short DNA sequences, typically ranging from one to a few dozen base pairs, by analyzing discrepancies between sequencing reads and a reference genome.

81

Publications

4K

Citations

558

Authors

226

Institutions

Publications per year

2017–2026

4

Parents

Publications

81

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

J. Fah Sathirapongsasuti, Hane Lee, Basil A. Horst et al. · Bioinformatics · 2011 · 391 citations · Full text

, , +17

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

Richard A. Gibbs, P N Nguyen, Al Edwards et al. · Genomics · 1990 · 325 citations

, , +13

The<i>twist</i>gene: isolation of a Drosophila zygotle gene necessary for the establishment of dorsoventral pattern

Bernard Thisse, Mariam El Messal, Fabienne Perrin‐Schmitt · Nucleic Acids Research · 1987 · 306 citations · Full text

, , +13

Studies of FRAXA and FRAXE in women with premature ovarian failure.

Anna Murray, James L. Webb, Sara Grimley et al. · Journal of Medical Genetics · 1998 · 152 citations · Full text

, , +15

Molecular characterization of mutations induced by gamma irradiation in rice

Ryouhei Morita, Makoto Kusaba, Shūichi Iida et al. · Genes & Genetic Systems · 2009 · 140 citations · Full text

, , +13

1–5 of 81

Authors

558

  1. JS
    Jacqueline Schoumans

    Karolinska University Hospital, Sweden

    2 publications · 32 citations

    2

    h-index

  2. ML
    Mark L. Edgley

    University of British Columbia, Canada

    2 publications · 166 citations

    2

    h-index

  3. AD
    Axelle Daviet

    Centre Hospitalier Universitaire de Nantes, France

    2 publications · 124 citations

    2

    h-index

  4. HT
    H Toki

    Shikoku Cancer Center, Japan

    1 publications · 20 citations

    1

    h-index

  5. FS
    Fiorella Shabtai

    Tel Aviv University, Israel

    1 publications · 19 citations

    1

    h-index

1–5 of 558

Institutions

226

  1. Inserm

    Paris, France

    4 h-index

    24 publications

    1.9K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    3 h-index

    5 publications

    1.1K citations

  3. University of British Columbia

    Vancouver, Canada

    3 h-index

    7 publications

    659 citations

  4. Casa Sollievo della Sofferenza

    San Giovanni Rotondo, Italy

    3 h-index

    12 publications

    200 citations

  5. Christian-Albrechts-Universität zu Kiel

    Kiel, Germany

    2 h-index

    11 publications

    705 citations

  6. National Yang Ming Chiao Tung University

    Hsinchu, Taiwan

    2 h-index

    2 publications

    42 citations

  7. Baylor Genetics

    Houston, United States

    2 h-index

    14 publications

    1.5K citations

  8. Poznan University of Medical Sciences

    Poznan, Poland

    2 h-index

    2 publications

    86 citations

1–8 of 226

Venues

  1. Clinical Genetics

    5 publications · 137 citations

    5

    h-index

  2. Human Mutation

    5 publications · 268 citations

    5

    h-index

  3. British Journal of Haematology

    BJH · 4 publications · 158 citations

    4

    h-index

  4. American Journal of Medical Genetics

    3 publications · 130 citations

    3

    h-index

  5. European Journal of Medical Genetics

    3 publications · 76 citations

    3

    h-index

1–5