Concepedia

Exome Sequencing Analysis

Exome Sequencing Analysis is a genomic analysis method that selectively targets and sequences the protein-coding regions of the genome to identify variants within exons that may underlie phenotypic traits or diseases.

766

Publications

66K

Citations

9.9K

Authors

2.2K

Institutions

Publications per year

2017–2026

391

Parents

Publications

766

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

, , +9

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

, , +17

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

, , +8

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

Kornelius Schulze, Sandrine Imbeaud, Éric Letouzé et al. · Nature Genetics · 2015 · 1.9K citations · Full text

, , +14

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text

, , +16

1–5 of 766

Authors

9.9K

  1. DA
    Deborah A. Nickerson

    University of Washington, United States

    23 publications · 9.3K citations

    20

    h-index

  2. MJ
    Michael J. Bamshad

    University of Washington, United States

    17 publications · 7.7K citations

    16

    h-index

  3. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    12 publications · 834 citations

    11

    h-index

  4. DB
    David B. Goldstein

    Duke University, United States

    12 publications · 3.5K citations

    11

    h-index

  5. JW
    Jun Wang

    BGI Group (China), China

    13 publications · 2.5K citations

    11

    h-index

1–5 of 9.9K

Institutions

2.2K

  1. University of Washington

    Seattle, United States

    33 h-index

    274 publications

    99.9K citations

  2. Harvard University

    Cambridge, United States

    29 h-index

    264 publications

    47.1K citations

  3. National Institutes of Health

    Bethesda, United States

    26 h-index

    172 publications

    12.4K citations

  4. Baylor College of Medicine

    Houston, United States

    26 h-index

    263 publications

    69.9K citations

  5. Broad Institute

    Cambridge, United States

    24 h-index

    280 publications

    33K citations

  6. Inserm

    Paris, France

    24 h-index

    275 publications

    48.1K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    23 h-index

    185 publications

    46.8K citations

  8. Massachusetts General Hospital

    Boston, United States

    23 h-index

    139 publications

    23.4K citations

1–8 of 2.2K

Venues

  1. Genetics in Medicine

    GIM · 44 publications · 4.7K citations

    33

    h-index

  2. The American Journal of Human Genetics

    AJHG · 32 publications · 5.1K citations

    29

    h-index

  3. PLoS ONE

    34 publications · 2.2K citations

    26

    h-index

  4. European Journal of Human Genetics

    EJHG · 23 publications · 795 citations

    17

    h-index

  5. Journal of Medical Genetics

    JMG · 17 publications · 907 citations

    15

    h-index

1–5