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Bioscience

Biometrology

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Jointly benchmarking small and structural variant calls with vcfdist

October 2, 2024

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Tim Dunn, Justin Zook, James Holt, Satish Narayanasamy

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