Technology
A clinically structured sequencing workflow from intake to interpretation.
The cWGS material expands the site beyond poster content, giving clinicians and geneticists deeper context around coverage, detection scope, and reporting workflow.
SNV and InDel detection
Exon-level and chromosome-level CNV
Mitochondrial genome analysis
Deep intron review where applicable
Structural variation and loss of heterozygosity
Dynamic mutation support in selected workflows
Sequencing platform
BGI DNBSEQ technology powering WES and WGS.
DNBSEQ uses DNA Nanoball technology to deliver high accuracy, low duplication rates, and consistent coverage across both exome and whole genome workflows.
cWES on DNBSEQ
Clinical Whole Exome Sequencing is performed on DNBSEQ high-throughput platforms with paired-end 100/150 bp reads. The workflow captures 22,000+ protein-coding genes at a mean depth of ≥200X, with ≥98.5% of target bases covered at 20X.
cWGS on DNBSEQ
Clinical Whole Genome Sequencing leverages DNBSEQ ultra-high-throughput sequencers to cover the entire 3 billion base pair genome at a mean depth of ≥40X, with ≥90% of bases covered at 20X. The platform detects SNVs, Indels, CNVs, mitochondrial variants, structural variants, and dynamic mutations in a single unified workflow.
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