Concepedia

Read-depth Based Variant Detection

Read-Depth Based Variant Detection is a computational method for identifying structural variants in genomic sequences by analyzing the local deviations in sequencing read depth relative to a reference genome, distinguishing it from other variant detection approaches through its reliance on depth-of-coverage patterns rather than read-pair, split-read, or assembly-based signals.

50

Publications

5.7K

Citations

340

Authors

158

Institutions

Publications per year

2017–2026

28

Parents

Publications

50

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer, Colby Chiang, Aaron R. Quinlan et al. · Genome biology · 2014 · 1.8K citations · Full text

, , +17

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Vincent Plagnol, James Curtis, Michael P. Epstein et al. · Bioinformatics · 2012 · 753 citations · Full text

, , +17

Sensitive and accurate detection of copy number variants using read depth of coverage

Seungtai Yoon, Zhenyu Xuan, Vladimir Makarov et al. · Genome Research · 2009 · 655 citations · Full text

, , +17

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Brett Trost, Susan Walker, Zhuozhi Wang et al. · The American Journal of Human Genetics · 2018 · 208 citations · Full text

, , +17

ctDNA monitoring using patient-specific sequencing and integration of variant reads

Jonathan C. M. Wan, Katrin Heider, Davina Gale et al. · Science Translational Medicine · 2020 · 200 citations · Full text

, , +17

1–5 of 50

Authors

340

  1. AR
    Aaron R. Quinlan

    University of Utah, United States

    4 publications · 2K citations

    4

    h-index

  2. BS
    Brent S. Pedersen

    University of Utah, United States

    3 publications · 245 citations

    3

    h-index

  3. RM
    Ryan M. Layer

    University of Utah, United States

    3 publications · 1.9K citations

    3

    h-index

  4. JD
    Junbo Duan

    Xi'an Jiaotong University, China

    2 publications · 108 citations

    3

    h-index

  5. XY
    Xiguo Yuan

    Xidian University, China

    2 publications · 92 citations

    3

    h-index

1–5 of 340

Institutions

158

  1. Icahn School of Medicine at Mount Sinai

    New York, United States

    3 h-index

    7 publications

    385 citations

  2. Harvard University

    Cambridge, United States

    3 h-index

    3 publications

    169 citations

  3. University of Utah

    Salt Lake City, United States

    3 h-index

    12 publications

    970 citations

  4. Xidian University

    Xi'an, China

    3 h-index

    8 publications

    380 citations

  5. University of Pennsylvania

    Philadelphia, United States

    3 h-index

    8 publications

    181 citations

  6. Star Center

    Jackson, United States

    3 h-index

    12 publications

    970 citations

  7. Sungkyunkwan University

    Seoul, South Korea

    2 h-index

    2 publications

    39 citations

  8. University of Florence

    Florence, Italy

    2 h-index

    7 publications

    531 citations

1–8 of 158

Venues

  1. Genome biology

    5 publications · 2.3K citations

    5

    h-index

  2. BMC Bioinformatics

    5 publications · 218 citations

    5

    h-index

  3. Nucleic Acids Research

    5 publications · 245 citations

    5

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 4 publications · 60 citations

    4

    h-index

  5. Bioinformatics

    3 publications · 789 citations

    3

    h-index

1–5