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Invitae (United States)

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Publications

1.1K

Citations

83.6K

Authors

91

Location

San Francisco, United States

Invitae (United States) is a company institution in San Francisco, United States known for genetics, life sciences, and medical genetics.

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Publications

1.1K

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.7K citations · Full text

, , +17

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

, , +14

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

, , +15

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 606 citations · Full text

, , +14

1–5 of 1.1K

Authors

91

  1. RL
    Robert L. Nussbaum

    Invitae (United States), United States

    497 publications · 27.7K citations

    82

    h-index

  2. SA
    Swaroop Aradhya

    Invitae (United States), United States

    180 publications · 12.2K citations

    44

    h-index

  3. ED
    Edward D. Esplin

    Invitae (United States), United States

    277 publications · 7.2K citations

    37

    h-index

  4. AM
    Ana Morales

    Invitae (United States), United States

    122 publications · 6.3K citations

    36

    h-index

  5. SE
    Stephen E. Lincoln

    Invitae (United States), United States

    83 publications · 17.6K citations

    31

    h-index

1–5 of 91