Long Fragment Read Whole Genome Sequencing Service Description
Current short-read based Whole Genome Sequencing (WGS) is the most widely used method for identifying genome-wide aberrations such as point mutations with read length typically less than several hundred base pairs. This short-read based WGS approach is proven to be highly informative in terms of detection of point mutations, indels and copy number alterations. However, short-read sequencing often results in sequences with scaffolding gaps, bias due to high GC content, repeat sequences and mis-aligned sequences. To interrogate the human genome at a higher resolution with better quality, the standard NGS workflow is challenged, especially for complex Structural Variation (SV) discovery, due to insufficient read coverage at breakpoints and loss of long-range genomic contiguity.
Long Fragment Read WGS for Superior SV Detection
DNBSEQ™ Sequencing Technology
BGI Human Whole Genome Sequencing services are typically executed with DNBSEQ™ NGS technology platform, for great sequencing data at the competitive pricing in the industry.
This system is powered by combinatorial Probe-Anchor Synthesis (cPAS), linear isothermal Rolling-Circle Replication and DNA Nanoballs (DNB™) technology, followed by high-resolution digital imaging.
1.Wang, O., et al., Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly. Genome Res, 2019. 29(5): p. 798-808.
2.Peters, B.A., J. Liu, and R. Drmanac, Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for “perfect genome” sequencing. Front Genet, 2014. 5: p. 466.
- SAMPLE PREPARATIONSample QC
- WGS LIBRARY PREPARATIONLibrary QC
- SEQUENCINGData QC
- RAW DATA OUTPUTDelivery QC
- BIOINFORMATICS ANALYSIS
How to order
Sequencing Service Specification
Sequencing Quality Standard
- Co-barcoded LFR library preparation
- PE100 DNBSEQ™ sequencing
- Guaranteed ≥80% of bases with quality score of ≥Q30
- CAP/CLIA laboratory services available
- Standard and customized bioinformatics analysis available
- Available data storage and bioinformatics applications
Turn Around Time
- Typical 40 working days from sample QC acceptance to filtered raw data availability
- Expedited services are available, contact your local BGI specialist for details
- SNP calling and annotation
- SNP validation and comparison
- SNP functionality and conservation prediction
- SNP statistics per functional element
- InDel calling and annotation
- InDel validation and comparison
- InDel statistics per functional element
- CNV calling and annotation
- SV calling and annotation
Further customization of Bioinformatics analysis to suit your unique project is available: Please contact your BGI technical representative