Concepedia

Single-nucleotide Variant Calling

Single-Nucleotide Variant Calling is a computational method in variant analysis that identifies positions in a genome where a single nucleotide base differs from a reference sequence, enabling the detection of genetic variation at single-base resolution.

98

Publications

10.8K

Citations

822

Authors

252

Institutions

Publications per year

2017–2026

57

Variants

Snv Calling

Parents

Publications

98

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin, Pi-Chuan Chang, David H. Alexander et al. · Nature Biotechnology · 2018 · 1.9K citations

, , +14

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

Marta Byrska-Bishop, Uday S. Evani, Xuefang Zhao et al. · Cell · 2022 · 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

An open resource for accurately benchmarking small variant and reference calls

Justin M. Zook, Jennifer McDaniel, Nathan D. Olson et al. · Nature Biotechnology · 2019 · 460 citations

, , +14

Denoising DNA deep sequencing data—high-throughput sequencing errors and their correction

David Laehnemann, Arndt Borkhardt, Alice C. McHardy · Briefings in Bioinformatics · 2015 · 331 citations · Full text

, , +17

1–5 of 98

Authors

822

  1. LO
    Laura Oikkonen

    Centre for Human Genetics, United Kingdom

    3 publications · 264 citations

    3

    h-index

  2. ZL
    Ziyi Li

    Shanghai Jiao Tong University, China

    2 publications · 208 citations

    2

    h-index

  3. RG
    Ranran Gao

    Peking University, China

    2 publications · 208 citations

    2

    h-index

  4. EJ
    Eric J. Duncavage

    Washington University in St. Louis, United States

    2 publications · 250 citations

    2

    h-index

  5. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    2 publications · 729 citations

    2

    h-index

1–5 of 822

Institutions

252

  1. Wellcome Sanger Institute

    Cambridge, United Kingdom

    5 h-index

    24 publications

    4.5K citations

  2. Broad Institute

    Cambridge, United States

    5 h-index

    43 publications

    12.4K citations

  3. Centre for Human Genetics

    Oxford, United Kingdom

    4 h-index

    18 publications

    3.2K citations

  4. Massachusetts General Hospital

    Boston, United States

    4 h-index

    32 publications

    7.1K citations

  5. Washington University in St. Louis

    St Louis, United States

    4 h-index

    17 publications

    5.8K citations

  6. University of Oxford

    Oxford, United Kingdom

    4 h-index

    19 publications

    3.4K citations

  7. Stanford University

    Stanford, United States

    4 h-index

    11 publications

    1.3K citations

  8. Baylor College of Medicine

    Houston, United States

    4 h-index

    9 publications

    824 citations

1–8 of 252

Venues

  1. Bioinformatics

    12 publications · 860 citations

    10

    h-index

  2. PLoS ONE

    8 publications · 370 citations

    8

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 407 citations

    5

    h-index

  4. BMC Genomics

    6 publications · 227 citations

    5

    h-index

  5. Nucleic Acids Research

    3 publications · 980 citations

    3

    h-index

1–5