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Jointly benchmarking small and structural variant calls with vcfdist
Published
Author(s)
Tim Dunn, Justin Zook, James Holt, Satish Narayanasamy
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.
Dunn, T.
, Zook, J.
, Holt, J.
and Narayanasamy, S.
(2024),
Jointly benchmarking small and structural variant calls with vcfdist, Genome Biology, [online], https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=957429
(Accessed October 9, 2025)