Long-read Human Whole Genome Resequencing
Structural variants (SVs), including deletions, insertions, duplications, and inversions, account for most base pairs variations in an individual human genome.
Long-read sequencing can precisely position in SV, as well as solving complex SV structures. Long-read sequencing can effectively solve some of the insurmountable problems in short-read sequencing, and greatly improve the detection rate of large structural variation sites by constructing ultra-long fragment libraries.
The advent of new long-read sequencing technology has led to a revolution in genome sequencing, where long reads up to 100 Kb can be sequenced in a single run without PCR amplification. Long-read sequencing approaches provide the opportunity to more accurately and reliably detect SNP, InDel, SV and CNV at a much higher resolution.
Project Workflow
- SAMPLE PREPARATIONSample QC
- LIBRARY CONSTRUCTIONLibrary QC
- SEQUENCINGSequencing QC
- RAW DATA OUTPUTData QC
- BIOINFORMATICS ANALYSISDelivery QC
Sequencing Technology
Our long-read sequencing services are performed with the PacBio Revio platform and the Nanopore platform.
How to order
Sequencing Service Specification
Sample Preparation and Services
- PacBio Revio & Nanopore platforms are available
- 3-6 ml fresh blood samples are recommended
- Appropriate sequencing strategies are recommended according to different data
Turn Around Time
- Nanopore (normal library): Typical 30 working days from Sample QC acceptance to data analysis report availability
- PacBio: Typical 30 working days from Sample QC acceptance to data analysis report availability
- Expedited services are available; contact your local BGI Genomics specialist for details
Sample Requirements
| Sample Type | Library Type | Amount | OD |
|---|---|---|---|
| Genomic DNA | PacBio HiFi CCS | m≥14 μg, c≥80 ng/μL | OD260/280：1.6-2.2 OD260/230：1.6-2.5 |
| Genomic DNA | Normal Nanopore library | m≥2 μg, c≥50 ng/μL | OD260/280=1.8-2.0 OD260/230≥1.5 |
| Genomic DNA | Nanopore Ultra long library | m≥10 μg, c≥50 ng/μL | OD260/280=1.8-2.0 OD260/230≥1.5 |
Data Analysis
- Data filtering: filter the low quality reads
- Data alignment: long reads were aligned to the human reference sequences by alignment software
- Data statistics: statistical sequencing depth and coverage
- SNP calling and annotation
- InDel calling and annotation
- SV calling and annotation
- CNV calling and annotation
CUSTOM ANALYSIS
