Concepedia

Reference-based Variant Detection

Reference-Based Variant Detection is a computational method in genomics that identifies genetic variants by aligning sequencing reads to a reference genome and detecting discrepancies indicative of nucleotide substitutions, insertions, deletions, or structural alterations.

60

Publications

8.2K

Citations

514

Authors

193

Institutions

Publications per year

2017–2026

30

Variants

Reference-based Variant Calling

Parents

Publications

60

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 2.1K citations · Full text

, , +17

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

Deborah A. Nickerson · Nucleic Acids Research · 1997 · 938 citations

, , +16

Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome

Justin M. Zook, Brad Chapman, Jason Wang et al. · arXiv (Cornell University) · 2013 · 552 citations · Full text

, , +15

Assemblytics: a web analytics tool for the detection of variants from an assembly

Maria Nattestad, Michael C. Schatz · Bioinformatics · 2016 · 442 citations · Full text

, , +17

A complete reference genome improves analysis of human genetic variation

Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto et al. · Science · 2022 · 433 citations · Full text

, , +17

1–5 of 60

Authors

514

  1. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    6 publications · 1.2K citations

    6

    h-index

  2. CX
    Chunlin Xiao

    National Center for Biotechnology Information, United States

    4 publications · 746 citations

    4

    h-index

  3. AS
    Arend Sidow

    Stanford University, United States

    4 publications · 108 citations

    4

    h-index

  4. MY
    Megan Y. Dennis

    University of California, Davis, United States

    3 publications · 542 citations

    3

    h-index

  5. KH
    Karen H. Miga

    University of California, Santa Cruz, United States

    3 publications · 143 citations

    3

    h-index

1–5 of 514

Institutions

193

  1. Stanford University

    Stanford, United States

    7 h-index

    25 publications

    1.9K citations

  2. National Institute of Standards and Technology

    Gaithersburg, United States

    5 h-index

    14 publications

    2.3K citations

  3. Johns Hopkins University

    Baltimore, United States

    4 h-index

    22 publications

    5.4K citations

  4. Cold Spring Harbor Laboratory

    Cold Spring Harbor, United States

    4 h-index

    7 publications

    2.1K citations

  5. Science for Life Laboratory

    Stockholm, Sweden

    4 h-index

    13 publications

    1.5K citations

  6. Uppsala University

    Uppsala, Sweden

    4 h-index

    7 publications

    843 citations

  7. National Center for Biotechnology Information

    Bethesda, United States

    4 h-index

    11 publications

    1.8K citations

  8. University of California, Santa Cruz

    Santa Cruz, United States

    4 h-index

    11 publications

    2.2K citations

1–8 of 193

Venues

  1. Genome biology

    8 publications · 674 citations

    7

    h-index

  2. Bioinformatics

    6 publications · 640 citations

    6

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 2.3K citations

    5

    h-index

  4. Nucleic Acids Research

    4 publications · 1.1K citations

    4

    h-index

  5. PLoS ONE

    2 publications · 92 citations

    2

    h-index

1–5