Published March 4, 2026 | Version v1
Dataset Open

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

Description

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. 

Files

Files (44.7 GB)

Name Size
md5:a0fec5a792718c51840a5524a0a601db
20.2 GB Download
md5:a1577f7c9d436fede58a9a972f3f06e4
809 Bytes Download
md5:0cccdaf028ed1adbfcfc8155a02cd69d
17.6 GB Download
md5:093a0f10661014fb820e0f776891a7a9
3.3 GB Download
md5:edb003c019dcaf162b1060479f7926b8
3.6 GB Download

Additional details

Funding

Canadian Institutes of Health Research
PJT-191707