Concepedia

Population-based Phenotyping

Population-Based Phenotyping is a systematic approach to disease characterization that identifies and analyzes phenotypic patterns across large, representative populations to distinguish individual or subgroup traits within the broader epidemiological and genetic context.

83

Publications

4.5K

Citations

999

Authors

422

Institutions

Publications per year

2017–2026

41

Parents

Publications

83

The LIFE-Adult-Study: objectives and design of a population-based cohort study with 10,000 deeply phenotyped adults in Germany

Markus Loeffler, Christoph Engel, Peter Ahnert et al. · BMC Public Health · 2015 · 374 citations · Full text

, , +14

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Danish Saleheen, Pradeep Natarajan, Irina M. Armean et al. · Nature · 2017 · 356 citations · Full text

, , +12

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Michelle M. Clark, Amber Hildreth, Serge Batalov et al. · Science Translational Medicine · 2019 · 295 citations · Full text

, , +17

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Lisa Bastarache, Jacob Hughey, Scott J. Hebbring et al. · Science · 2018 · 239 citations

, , +17

Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics

Philip Awadalla, Cathérine Boileau, Yves Payette et al. · International Journal of Epidemiology · 2012 · 236 citations · Full text

, , +12

1–5 of 83

Authors

999

  1. MD
    Marylyn D. Ritchie

    Vanderbilt University, United States

    3 publications · 72 citations

    3

    h-index

  2. PS
    Philip S. Tsao

    Stanford University, United States

    3 publications · 247 citations

    3

    h-index

  3. JE
    Jennifer E. Huffman

    Harvard University, United States

    3 publications · 247 citations

    3

    h-index

  4. YH
    Yuk‐Lam Ho

    VA Boston Healthcare System, United States

    3 publications · 247 citations

    3

    h-index

  5. EF
    Eric Farber‐Eger

    Vanderbilt University Medical Center, United States

    3 publications · 62 citations

    3

    h-index

1–5 of 999

Institutions

422

  1. Harvard University

    Cambridge, United States

    9 h-index

    41 publications

    4.7K citations

  2. Vanderbilt University Medical Center

    Nashville, United States

    8 h-index

    61 publications

    6.3K citations

  3. University of Pennsylvania

    Philadelphia, United States

    6 h-index

    29 publications

    3.6K citations

  4. Massachusetts General Hospital

    Boston, United States

    5 h-index

    20 publications

    3.4K citations

  5. Center for Human Genetics

    Bar Harbor, United States

    5 h-index

    17 publications

    761 citations

  6. Brigham and Women's Hospital

    Boston, United States

    5 h-index

    15 publications

    1.1K citations

  7. Icahn School of Medicine at Mount Sinai

    New York, United States

    4 h-index

    10 publications

    743 citations

  8. Yale University

    New Haven, United States

    4 h-index

    16 publications

    769 citations

1–8 of 422

Venues

  1. Human Heredity

    6 publications · 158 citations

    6

    h-index

  2. PLoS ONE

    3 publications · 70 citations

    3

    h-index

  3. Nature Methods

    3 publications · 232 citations

    3

    h-index

  4. medRxiv

    Repository · 3 publications · 83 citations

    3

    h-index

  5. Molecular Genetics and Metabolism

    2 publications · 35 citations

    2

    h-index

1–5