Concepedia

Genetic Testing Interpretation

Genetic Testing Interpretation is the systematic analysis and clinical evaluation of genetic test results to determine their implications for an individual's health, disease risk, or hereditary conditions, distinguishing it from raw data generation by focusing on the integration of genetic variants, phenotypic data, and biomedical knowledge to derive actionable medical insights.

166

Publications

9.2K

Citations

915

Authors

461

Institutions

Publications per year

2017–2026

54

Parents

Publications

166

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

American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility

Journal of Clinical Oncology · 2003 · 754 citations

, , +17

Charcot‐marie‐tooth disease subtypes and genetic testing strategies

A. Saporta, Stephanie L. Sottile, Lindsey J. Miller et al. · Annals of Neurology · 2011 · 527 citations

, , +14

The known unknown: the challenges of genetic variants of uncertain significance in clinical practice

Lily Hoffman‐Andrews · Journal of Law and the Biosciences · 2017 · 226 citations · Full text

, , +14

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, Wendy K. Chung, Hutton M. Kearney et al. · Genetics in Medicine · 2019 · 222 citations · Full text

, , +13

1–5 of 166

Authors

915

  1. WB
    Wylie Burke

    University of Washington, United States

    4 publications · 158 citations

    4

    h-index

  2. KE
    Kelly E. Ormond

    Stanford University, United States

    4 publications · 168 citations

    4

    h-index

  3. MK
    Mark Kroese

    PHG Foundation, United Kingdom

    3 publications · 192 citations

    3

    h-index

  4. SB
    Susanne B. Haga

    Duke University, United States

    3 publications · 198 citations

    3

    h-index

  5. HL
    Heidi L. Rehm

    Harvard University, United States

    3 publications · 1.6K citations

    3

    h-index

1–5 of 915

Institutions

461

  1. Stanford University

    Stanford, United States

    10 h-index

    31 publications

    3K citations

  2. University of Washington

    Seattle, United States

    8 h-index

    15 publications

    542 citations

  3. University of Utah

    Salt Lake City, United States

    7 h-index

    8 publications

    269 citations

  4. Stanford Medicine

    Stanford, United States

    6 h-index

    15 publications

    555 citations

  5. Harvard University

    Cambridge, United States

    6 h-index

    11 publications

    617 citations

  6. Massachusetts General Hospital

    Boston, United States

    5 h-index

    14 publications

    966 citations

  7. Brigham and Women's Hospital

    Boston, United States

    5 h-index

    10 publications

    2K citations

  8. University of Oxford

    Oxford, United Kingdom

    5 h-index

    10 publications

    490 citations

1–8 of 461

Venues

  1. Genetics in Medicine

    GIM · 19 publications · 1.1K citations

    17

    h-index

  2. European Journal of Human Genetics

    EJHG · 9 publications · 471 citations

    9

    h-index

  3. Journal of Genetic Counseling

    8 publications · 368 citations

    8

    h-index

  4. New England Journal of Medicine

    NEJM · 5 publications · 1.8K citations

    5

    h-index

  5. Journal of Community Genetics

    4 publications · 90 citations

    4

    h-index

1–5