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

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.