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.
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
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.
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.