Whole Genome Sequencing (WGS) is a powerful tool when investigating rare diseases of unknown causes, and for exploratory studies that involve regulatory elements or structural variation.
Why sequence a genome?
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
1. Initial meeting
2. Sample delivery
- 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
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
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.
- 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
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.
We have summarized key information about our whole genome sequencing service into a service specification sheet.
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