Jointly benchmarking small and structural variant calls with vcfdist

Jointly benchmarking small and structural variant calls with vcfdist

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 stru...

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Bibliographic Details
Main Authors: Tim Dunn, Justin M. Zook, James M. Holt, Satish Narayanasamy
Format: Article
Language:English
Published: BMC 2024-10-01
Series:Genome Biology
Subjects:
Benchmarking
Variant calling
Structural variation
Single-nucleotide polymorphism
Insertion
Deletion
Online Access:https://doi.org/10.1186/s13059-024-03394-5

Internet

https://doi.org/10.1186/s13059-024-03394-5

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