Concepedia

Sequencing-based Diagnostics

Sequencing-Based Diagnostics is a molecular diagnostic methodology that uses nucleic acid sequencing technologies to identify genetic variations and molecular signatures for disease detection, characterization, and monitoring.

2.3K

Publications

141K

Citations

20.8K

Authors

3.8K

Institutions

Publications per year

2017–2026

1.3K

Parents

Children

Publications

2.3K

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

, , +17

Real-time, portable genome sequencing for Ebola surveillance

Joshua Quick, Nicholas J. Loman, Sophie Duraffour et al. · Nature · 2016 · 1.6K citations · Full text

, , +14

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Jennifer Saam, Christopher Arnell, Aaron Theisen et al. · Oncology · 2015 · 1.5K citations · Full text

, , +17

Real-Time Whole-Genome Sequencing for Routine Typing, Surveillance, and Outbreak Detection of Verotoxigenic Escherichia coli

Katrine Joensen, Flemming Scheutz, Ole Lund et al. · Journal of Clinical Microbiology · 2014 · 1.4K citations · Full text

, , +17

Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA

Tim Forshew, Muhammed Murtaza, Christine Parkinson et al. · Science Translational Medicine · 2012 · 1.3K citations

, , +17

1–5 of 2.3K

Authors

20.8K

  1. ZS
    Zornitza Stark

    Murdoch Children's Research Institute, Australia

    16 publications · 2.2K citations

    15

    h-index

  2. CM
    Christine M. Eng

    Baylor College of Medicine, United States

    11 publications · 3.7K citations

    12

    h-index

  3. SM
    Susan M. White

    The University of Melbourne, Australia

    12 publications · 2.2K citations

    12

    h-index

  4. HG
    Helger G. Yntema

    Radboud University Nijmegen, Netherlands

    12 publications · 1.8K citations

    12

    h-index

  5. TM
    Tim M. Strom

    Helmholtz Zentrum München, Germany

    12 publications · 1.1K citations

    12

    h-index

1–5 of 20.8K

Institutions

3.8K

  1. Inserm

    Paris, France

    40 h-index

    544 publications

    35.2K citations

  2. University College London

    London, United Kingdom

    39 h-index

    335 publications

    23.9K citations

  3. Harvard University

    Cambridge, United States

    37 h-index

    358 publications

    44.6K citations

  4. Baylor College of Medicine

    Houston, United States

    37 h-index

    457 publications

    104.7K citations

  5. The University of Melbourne

    Melbourne, Australia

    33 h-index

    217 publications

    26.8K citations

  6. Radboud University Nijmegen

    Nijmegen, The Netherlands

    33 h-index

    364 publications

    41.2K citations

  7. Radboud University Medical Center

    Nijmegen, The Netherlands

    33 h-index

    341 publications

    39.7K citations

  8. Massachusetts General Hospital

    Boston, United States

    31 h-index

    208 publications

    25.1K citations

1–8 of 3.8K

Venues

  1. Genetics in Medicine

    GIM · 91 publications · 11.7K citations

    53

    h-index

  2. Journal of Molecular Diagnostics

    JMD · 81 publications · 3.6K citations

    38

    h-index

  3. European Journal of Human Genetics

    EJHG · 50 publications · 4.3K citations

    33

    h-index

  4. PLoS ONE

    71 publications · 3K citations

    29

    h-index

  5. Scientific Reports

    46 publications · 1.6K citations

    26

    h-index

1–5