Whole Genome Sequencing (WGS) is a particularly powerful tool when investigating rare diseases of unknown causes, and for exploratory studies that involve regulatory elements or structural variation.
Whole Genome Sequencing
Uniform coverage of your sample sequence
Why sequence a genome?
Discuss your project with me
Main advantages of WGS
In comparison to Whole Exome Sequencing (WES), which focuses only on the protein-coding regions of the genome, WGS provides a close to full coverage of the genome.
Because of this, WGS is preferred by many researchers who aim to dig deep into these large sets of data, to explore the remaining largely unexplored variations.
- PCR-free library preparation including unique dual indexing (UDIs) and unique molecular identifiers (UMIs)
- Accurate representation of GC-rich gene sequences
- SNP, Indel and CNV analysis possible
- Uniform coverage of the complete genome
- De-novo sequencing of previously unexplored genomes, including non-coding regions
- Possibility to re-examine genomic regions in the future with new knowledge
Service workflow
1. Initial meeting
When you consider using one of our services, our scientific team will help choosing the optimal project design. Each service can be customized by adding options. You will receive an overview of project budget and deliverables, so you can make an informed choice. Once you return your Purchase Order form, your project manager will contact you to discuss the next steps.
2. Sample delivery
Sample specifications for whole genome sequencing are:
Purified DNA
- For PCR-free: >100ng/sample purified DNA
- Validated input: ≥ 10ng / sample
- Minimum volume: 20μL / sample
- Quality: Column or bead purified DNA
3. Sample entry QC
After sample arrival, an entry QC is performed to determine if the sample quality and quantity is sufficient so we can guarantee the data outcome stated in your quotation. You will receive a report with sample QC results to inform you of our findings before proceeding further. Samples that fail QC can be replaced by spare samples delivered in the same shipment or sent at a later stage.
4. Library prep/QC and sequencing
The library resulting from sample preparation goes into a library QC step to ensure sufficient material per sample and the right library size. Sequencing on Illumina NovaSeq 6000 (PE150):
- PCR free library preparation (≥100ng/sample purified DNA)
- Unique Molecular Identifiers
- Unique dual indexed sequencing adaptors
5. Data QC
The raw data that is generated by the sequencer must be divided to obtain one data file per sample. This is called demultiplexing.
Your project manager checks the data quality by analyzing the quality metrics of the run. Final inspection of the data takes place and the dataset is transferred onto a hard disk or on our portal.
6. Reporting
You receive your Project Report together with your data. It contains an overview of the experimental methods used, sample specifications, and a summary of all technical information for publication. Deliverables:
- TAT: 3 weeks after successful sample QC
- FastQ files via secure e-transfer
- Quality score Q30 of ≥80% for PE150 reads
- Optional data analysis with comprehensive report
Data analysis
As a result of WGS, ~165 Gb of data per human genome is produced. This presents challenges of extracting meaningful information and interpreting it. However, our experienced bioinformaticians at GenomeScan can apply optimized workflows for analyzing your dataset, and help you receive reliable and publication-ready results.
Whole Metagenome Shotgun Sequencing
When it comes to profiling microbial communities in a sample, sequencing whole genomes (whole metagenome shotgun sequencing) is an opportunity that presents particular advantages. Especially because of the use of PCR-free library preparation including unique dual indexing (UDIs) and unique molecular identifiers (UMIs). Read more about this technique here.
Product specifications
We have summarized key information about our whole genome sequencing service into a product specification sheet.
Let's get the conversation started for your next NGS project
Please either fill in this form or email us directly at info@genomescan.nl
and we will get in touch with you to discuss your requirements
