Concepedia

Single-variant Testing

Single-Variant Testing is a statistical inference method in rare variant analysis that evaluates the association between individual genetic variants and a phenotype by testing each variant separately, distinguishing it from aggregated or multi-variant approaches through its focus on single nucleotide-level effects.

42

Publications

2.3K

Citations

790

Authors

222

Institutions

Publications per year

2017–2026

19

Variants

Single-variant AnalysisSingle-variant Association Testing

Parents

Publications

42

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao et al. · Cell Genomics · 2022 · 295 citations · Full text

, , +14

Firth logistic regression for rare variant association tests

Xuefeng Wang · Frontiers in Genetics · 2014 · 254 citations · Full text

, , +13

Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data

Fenglin Liu, Yuanyuan Zhang, Lei Zhang et al. · Genome biology · 2019 · 198 citations · Full text

, , +16

Monovar: single-nucleotide variant detection in single cells

Hamim Zafar, Yong Wang, Luay Nakhleh et al. · Nature Methods · 2016 · 181 citations

, , +14

A platform for functional assessment of large variant libraries in mammalian cells

Kenneth A. Matreyek, Jason J. Stephany, Douglas M. Fowler · Nucleic Acids Research · 2017 · 154 citations · Full text

, , +13

1–5 of 42

Authors

790

  1. DD
    Daniel D. Kinnamon

    The Ohio State University, United States

    2 publications · 112 citations

    2

    h-index

  2. XS
    Xiaotong Shen

    University of Minnesota, United States

    2 publications · 77 citations

    2

    h-index

  3. HW
    Hugh Watkins

    University of Oxford, United Kingdom

    2 publications · 116 citations

    2

    h-index

  4. EB
    Eric Boerwinkle

    The University of Texas Health Science Center at Houston, United States

    2 publications · 63 citations

    2

    h-index

  5. JP
    Jonathan P. Tyrer

    University of Cambridge, United Kingdom

    2 publications · 50 citations

    2

    h-index

1–5 of 790

Institutions

222

  1. University of Michigan

    Ann Arbor, United States

    6 h-index

    24 publications

    1.3K citations

  2. University of Minnesota

    Minneapolis, United States

    5 h-index

    13 publications

    366 citations

  3. University of Cambridge

    Cambridge, United Kingdom

    5 h-index

    54 publications

    3.6K citations

  4. Johns Hopkins University

    Baltimore, United States

    4 h-index

    7 publications

    352 citations

  5. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    4 h-index

    10 publications

    270 citations

  6. National Institutes of Health

    Bethesda, United States

    4 h-index

    10 publications

    559 citations

  7. University of Washington

    Seattle, United States

    3 h-index

    15 publications

    780 citations

  8. University of Miami

    Coral Gables, United States

    3 h-index

    17 publications

    404 citations

1–8 of 222

Venues

  1. Genetic Epidemiology

    5 publications · 144 citations

    5

    h-index

  2. PLoS ONE

    3 publications · 84 citations

    3

    h-index

  3. Human Molecular Genetics

    2 publications · 84 citations

    2

    h-index

  4. Bioinformatics

    2 publications · 135 citations

    2

    h-index

  5. Scientific Reports

    2 publications · 66 citations

    2

    h-index

1–5