Concepedia

Haplotype Based Variant Calling

Haplotype Based Variant Calling is a variant calling method that identifies genetic variants by inferring haplotypes from sequencing reads and evaluating variant likelihoods within the context of reconstructed local haplotypic sequences, thereby improving accuracy through joint analysis of linked variants.

40

Publications

8.2K

Citations

182

Authors

92

Institutions

Publications per year

2017–2026

25

Variants

Haplotype-based Variant Calling

Parents

Publications

40

Haplotype-based variant detection from short-read sequencing

Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4.1K citations · Full text

, , +17

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Andy Rimmer, Hang Phan, Iain Mathieson et al. · Nature Genetics · 2014 · 1.2K citations · Full text

, , +14

BCFtools/csq: haplotype-aware variant consequences

Petr Danecek, Shane McCarthy · Bioinformatics · 2017 · 504 citations · Full text

, , +17

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

Kishwar Shafin, Trevor Pesout, Pi-Chuan Chang et al. · Nature Methods · 2021 · 325 citations · Full text

, , +13

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Jana Ebler, Peter Ebert, Wayne E. Clarke et al. · Nature Genetics · 2022 · 288 citations · Full text

, , +17

1–5 of 40

Authors

182

  1. EE
    Evan E. Eichler

    University of Washington, United States

    4 publications · 453 citations

    4

    h-index

  2. TM
    Tobias Marschall

    Heinrich Heine University Düsseldorf, Germany

    3 publications · 395 citations

    3

    h-index

  3. PC
    Pi-Chuan Chang

    Google (United States), United States

    3 publications · 422 citations

    3

    h-index

  4. GL
    Gerton Lunter

    University of Oxford, United Kingdom

    3 publications · 1.3K citations

    3

    h-index

  5. SL
    Stefano Lise

    University College London, United Kingdom

    2 publications · 66 citations

    2

    h-index

1–5 of 182

Institutions

92

  1. University of Oxford

    Oxford, United Kingdom

    7 h-index

    19 publications

    10.1K citations

  2. Centre for Human Genetics

    Oxford, United Kingdom

    6 h-index

    14 publications

    7.5K citations

  3. University of Washington

    Seattle, United States

    5 h-index

    8 publications

    1.1K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    4 h-index

    4 publications

    453 citations

  5. Google (United States)

    Mountain View, United States

    3 h-index

    13 publications

    2.2K citations

  6. Heinrich Heine University Düsseldorf

    Düsseldorf, Germany

    3 h-index

    11 publications

    1.7K citations

  7. New York Genome Center

    New York, United States

    3 h-index

    8 publications

    664 citations

  8. Science for Life Laboratory

    Stockholm, Sweden

    2 h-index

    2 publications

    98 citations

1–8 of 92

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 7 publications · 193 citations

    7

    h-index

  2. Bioinformatics

    5 publications · 609 citations

    5

    h-index

  3. Molecular Ecology Resources

    2 publications · 37 citations

    2

    h-index

  4. Nature Genetics

    2 publications · 1.5K citations

    2

    h-index

  5. Wellcome Open Research

    2 publications · 66 citations

    2

    h-index

1–5