Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome

Zenodo (CERN European Organization for Nuclear Research) 2026 Dataset Open access

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Authors: Robert J. M. Eveleigh, José Héctor Gálvez, Sarah Julia Reiling, Mathieu Bourgey, Guillaume Bourque, Ioannis Ragoussis
DOI: 10.5281/zenodo.18868531
Cited by: 0

Abstract

This dataset includes processed benchmarking data for different sequencing technologies using the GIAB GM24385 (H0002) cell line. Files include: Single nucleotide variant (SNV) calls from several callers and different sequencing technologies. Callers include: Clair3, DeepVariant, Dragen, and GATK. Structural variant (SV) calls from several callers and different sequencing technologies. Callers include: Dragen, Sniffles2, CuteSV, SVIM, and others. Quality assesment metrics as tab delimited files (TSV). Benchmarking results using Truvari and HapPy.

Fields of Study & Subjects

Genomics and Phylogenetic Studies Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
4 March 2026
Language
EN
Document type
Dataset