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bioRxiv · 10.1101/2024.01.23.575922

Jointly benchmarking small and structural variant calls with vcfdist

Dunn, T.·Zook, J. M.·Holt, J. M.·Narayanasamy, S.
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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. Next, we correct 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, but with improved result interpretability.

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Dunn, T., Zook, J. M., Holt, J. M., Narayanasamy, S.. 2024-01-25. Jointly benchmarking small and structural variant calls with vcfdist. https://doi.org/10.1101/2024.01.23.575922

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