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BioinformaticsGenome biology
Peer-reviewed journal article

Jointly benchmarking small and structural variant calls with vcfdist

Tim DunniD, Justin M. ZookiD, James HoltiD, Satish NarayanasamyiD

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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Tim Dunn, Satish Narayanasamy·Nature Communications·Dec 9, 2023· 22 citations