Concepedia

Phenotype-driven Genomic Analysis

Phenotype-Driven Genomic Analysis is a genomic research approach that prioritizes observable traits or clinical characteristics as the primary criterion for guiding the interpretation and integration of genetic data to identify disease-associated variants.

36

Publications

3.6K

Citations

466

Authors

166

Institutions

Publications per year

2017–2026

21

Parents

Publications

36

A Modular Analysis Framework for Blood Genomics Studies: Application to Systemic Lupus Erythematosus

Damien Chaussabel, Charles T. Quinn, Jing Shen et al. · Immunity · 2008 · 662 citations · Full text

, , +14

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

Patrick M. Nolan, Jo Peters, Mark Strivens et al. · Nature Genetics · 2000 · 658 citations

, , +14

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

Hui Yang, Peter N. Robinson, Kai Wang · Nature Methods · 2015 · 439 citations · Full text

, , +16

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth et al. · Science Translational Medicine · 2014 · 266 citations · Full text

, , +17

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*

Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes et al. · Pediatric Critical Care Medicine · 2019 · 150 citations · Full text

, , +17

1–5 of 36

Authors

466

  1. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    5 publications · 833 citations

    5

    h-index

  2. MH
    Melissa Haendel

    Oregon Health & Science University, United States

    4 publications · 394 citations

    4

    h-index

  3. DS
    Damian Smedley

    Queen Mary University of London, United Kingdom

    3 publications · 374 citations

    3

    h-index

  4. SF
    Stephen F. Kingsmore

    Children’s Institute, United States

    2 publications · 172 citations

    2

    h-index

  5. NG
    Nicole G. Coufal

    University of California San Diego, United States

    2 publications · 172 citations

    2

    h-index

1–5 of 466

Institutions

166

  1. Harvard University

    Cambridge, United States

    5 h-index

    21 publications

    1.9K citations

  2. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    4 h-index

    24 publications

    5.7K citations

  3. Queen Mary University of London

    London, United Kingdom

    4 h-index

    7 publications

    2.8K citations

  4. Lawrence Berkeley National Laboratory

    Berkeley, United States

    4 h-index

    9 publications

    794 citations

  5. Brigham and Women's Hospital

    Boston, United States

    3 h-index

    34 publications

    1.4K citations

  6. Oregon Health & Science University

    Portland, United States

    3 h-index

    13 publications

    1.2K citations

  7. Wellcome Sanger Institute

    Cambridge, United Kingdom

    3 h-index

    3 publications

    387 citations

  8. William Harvey Research Institute

    London, United Kingdom

    3 h-index

    3 publications

    128 citations

1–8 of 166

Venues

  1. Genetics in Medicine

    GIM · 4 publications · 304 citations

    4

    h-index

  2. PLoS ONE

    3 publications · 72 citations

    3

    h-index

  3. Nature Genetics

    2 publications · 699 citations

    2

    h-index

  4. Pediatric Critical Care Medicine

    2 publications · 172 citations

    2

    h-index

  5. PLoS Genetics

    1 publications · 41 citations

    1

    h-index

1–5