Concepedia

Read Alignment Based Variant Calling

Read Alignment Based Variant Calling is a variant calling approach that identifies genetic variants by analyzing aligned sequencing reads to detect deviations from a reference genome, distinguishing itself from assembly-based methods through its reliance on the positional mapping of reads to infer nucleotide differences at specific genomic loci.

33

Publications

5.5K

Citations

185

Authors

83

Institutions

Publications per year

2017–2026

23

Parents

Publications

33

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

, , +17

SpeedSeq: ultra-fast personal genome analysis and interpretation

Colby Chiang, Ryan M. Layer, Gregory G. Faust et al. · Nature Methods · 2015 · 657 citations · Full text

, , +17

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Neil Miller, Emily Farrow, Margaret Gibson et al. · Genome Medicine · 2015 · 322 citations · Full text

, , +17

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

M. Garcia, Szilveszter Juhos, Malin Larsson et al. · F1000Research · 2020 · 262 citations · Full text

, , +17

Fast and accurate genomic analyses using genome graphs

Goran Rakočević, Vladimir Semenyuk, Wan‐Ping Lee et al. · Nature Genetics · 2019 · 247 citations

, , +17

1–5 of 33

Authors

185

  1. MM
    Marcel Martin

    Science for Life Laboratory, Sweden

    4 publications · 496 citations

    4

    h-index

  2. BN
    Björn Nystedt

    Science for Life Laboratory, Sweden

    3 publications · 413 citations

    3

    h-index

  3. MN
    Monica Nistér

    Karolinska Institutet, Sweden

    3 publications · 413 citations

    3

    h-index

  4. VW
    Valtteri Wirta

    Karolinska Institutet, Sweden

    3 publications · 413 citations

    3

    h-index

  5. MK
    Max Käller

    Science for Life Laboratory, Sweden

    3 publications · 413 citations

    3

    h-index

1–5 of 185

Institutions

83

  1. Wellcome Sanger Institute

    Cambridge, United Kingdom

    4 h-index

    6 publications

    6.4K citations

  2. Science for Life Laboratory

    Stockholm, Sweden

    4 h-index

    28 publications

    3.8K citations

  3. Stockholm University

    Stockholm, Sweden

    4 h-index

    9 publications

    1.3K citations

  4. Linköping University

    Linköping, Sweden

    3 h-index

    3 publications

    413 citations

  5. KTH Royal Institute of Technology

    Stockholm, Sweden

    3 h-index

    3 publications

    413 citations

  6. Karolinska Institutet

    Stockholm, Sweden

    3 h-index

    21 publications

    2.9K citations

  7. Uppsala University

    Uppsala, Sweden

    3 h-index

    11 publications

    1.6K citations

  8. Ruhr University Bochum

    Bochum, Germany

    2 h-index

    2 publications

    79 citations

1–8 of 83

Venues

  1. PLoS ONE

    4 publications · 133 citations

    4

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 4 publications · 100 citations

    4

    h-index

  3. F1000Research

    3 publications · 411 citations

    3

    h-index

  4. Scientific Reports

    3 publications · 69 citations

    3

    h-index

  5. BMC Genomics

    3 publications · 155 citations

    3

    h-index

1–5