Jointly benchmarking small and structural variant calls with vcfdist

In this work, we extend vcfdist to be the first variant call benchmarking tool to jointly evaluate phased single-nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), and structural variants (SVs) for the whole genome. First, we find that a joint evaluation of small and structural variants uniformly reduces measured errors for SNPs (- 28.9%), INDELs (- 19.3%), and SVs (- 52.4%) across three datasets. vcfdist also corrects a common flaw in phasing evaluations, reducing measured flip errors by over 50%. Lastly, we show that vcfdist is more accurate than previously published works and on par with the newest approaches while providing improved result interpretability.

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Publication Details

Journal
Genome biology
Published
2024-10-02
DOI
https://doi.org/10.1186/s13059-024-03394-5
Citations
4
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
0.94

Funders

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article

Jointly benchmarking small and structural variant calls with vcfdist

Tim Dunn, Justin M. Zook, James Holt, Satish Narayanasamy
4 citations
Genome biology
Genomics and Phylogenetic Studies
0.94
article

Jointly benchmarking small and structural variant calls with vcfdist

Tim Dunn, Justin M. Zook, James Holt, Satish Narayanasamy
article en
4 citations

Abstract

In this work, we extend vcfdist to be the first variant call benchmarking tool to jointly evaluate phased single-nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), and structural variants (SVs) for the whole genome. First, we find that a joint evaluation of small and structural variants uniformly reduces measured errors for SNPs (- 28.9%), INDELs (- 19.3%), and SVs (- 52.4%) across three datasets. vcfdist also corrects a common flaw in phasing evaluations, reducing measured flip errors by over 50%. Lastly, we show that vcfdist is more accurate than previously published works and on par with the newest approaches while providing improved result interpretability.

Genome biologyVol. 25(1)
National Institute of Standards and Technology (US), University of Michigan (US), Pacific Biosciences (United States) (US)
National Science Foundation, National Institute of Standards and Technology
Openalex Percentile: Top 25%
Genomics and Phylogenetic Studies
0.94
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