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.
Authors
- Tim Dunn (ORCID: https://orcid.org/0000-0003-3429-4329)
- Justin M. Zook (ORCID: https://orcid.org/0000-0003-2309-8402)
- James Holt (ORCID: https://orcid.org/0000-0001-6411-9236)
- Satish Narayanasamy (ORCID: https://orcid.org/0000-0001-5016-1214)
Institutions
- National Institute of Standards and Technology (US)
- University of Michigan (US)
- Pacific Biosciences (United States) (US)
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
- National Science Foundation
- National Institute of Standards and Technology