Concepedia

Phenotype Validation

Phenotype Validation is an evaluation process in computational phenotyping that systematically assesses the accuracy and related performance characteristics of an algorithmic phenotype definition by comparing its assigned case statuses against an independent clinical gold standard within a specified population and setting.

282

Publications

20.3K

Citations

4K

Authors

1K

Institutions

Publications per year

2017–2026

180

Variants

Phenotype Validation Studies

Parents

Children

Publications

282

Phenomapping for Novel Classification of Heart Failure With Preserved Ejection Fraction

Sanjiv J. Shah, Daniel H. Katz, Senthil Selvaraj et al. · Circulation · 2014 · 1.1K citations · Full text

, , +14

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

Samuel A. Lambert, Laurent Gil, Simon Jupp et al. · Nature Genetics · 2021 · 744 citations · Full text

, , +11

New Comprehensive Cytogenetic Scoring System for Primary Myelodysplastic Syndromes (MDS) and Oligoblastic Acute Myeloid Leukemia After MDS Derived From an International Database Merge

Julie Schanz, Heinz Tüchler, Françesc Solé et al. · Journal of Clinical Oncology · 2012 · 691 citations · Full text

, , +17

Improved polygenic prediction by Bayesian multiple regression on summary statistics

Luke R. Lloyd‐Jones, Jian Zeng, Julia Sidorenko et al. · Nature Communications · 2019 · 572 citations · Full text

, , +17

A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders

Catherine Lord · Archives of General Psychiatry · 2011 · 514 citations · Full text

, , +17

1–5 of 282

Authors

4K

  1. TC
    Tianxi Cai

    Harvard University, United States

    8 publications · 631 citations

    8

    h-index

  2. JA
    Jennifer A. Pacheco

    Northwestern University, United States

    8 publications · 1K citations

    8

    h-index

  3. VS
    Vivian S. Gainer

    Mass General Brigham, United States

    7 publications · 536 citations

    7

    h-index

  4. SN
    Shawn N. Murphy

    Massachusetts General Hospital, United States

    7 publications · 499 citations

    7

    h-index

  5. PP
    Peggy Peissig

    Marshfield Clinic, United States

    7 publications · 1K citations

    7

    h-index

1–5 of 4K

Institutions

1K

  1. Harvard University

    Cambridge, United States

    21 h-index

    104 publications

    6.5K citations

  2. Northwestern University

    Evanston, United States

    18 h-index

    70 publications

    15.3K citations

  3. Brigham and Women's Hospital

    Boston, United States

    17 h-index

    55 publications

    4.7K citations

  4. Mayo Clinic

    Rochester, United States

    16 h-index

    44 publications

    4.3K citations

  5. Mayo Clinic in Florida

    Jacksonville, United States

    16 h-index

    49 publications

    2.7K citations

  6. Inserm

    Paris, France

    14 h-index

    80 publications

    3.7K citations

  7. Columbia University

    New York, United States

    14 h-index

    47 publications

    3.4K citations

  8. Vanderbilt University Medical Center

    Nashville, United States

    14 h-index

    94 publications

    7.8K citations

1–8 of 1K

Venues

  1. Journal of the American Medical Informatics Association

    JAMIA · 15 publications · 1.8K citations

    15

    h-index

  2. Journal of Biomedical Informatics

    8 publications · 324 citations

    8

    h-index

  3. PLoS ONE

    8 publications · 413 citations

    7

    h-index

  4. PubMed

    Repository · 7 publications · 270 citations

    7

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 3 publications · 113 citations

    3

    h-index

1–5