Whole-genome, Exome and Targeted sequencing Analysis

Exome sequencing is a technique to selectively sequence the coding regions of the genome as an effective alternative to whole-genome sequencing. This type of sequencing is most commonly used in projects aimed at detecting variants related to disease-causing protein structural and functional changes.
With targeted resequencing, a subset of genes or regions of interest are isolated and sequenced in high resolution. Pre-defined or customised gene panels enable researchers to focus on specific areas of interest, saving time and sequencing costs.
The following files can be provided with whole-genome, exome or targeted sequencing projects:
- Primary QC report (general QC metrics on sequencing quality for each sequenced sample)
- FASTQ (raw sequence data) and BAM (alignment) files for each sample
Bespoke downstream DNA sequencing analyses*:
- Annotated VCF files (list of identified variants annotated with a number of databases and with their potential effect on genes, transcripts, proteins, as well as regulatory regions)
- Secondary QC report (a set of QC metrics including coverage analysis and variant statistics for each sample)
- Variant filtering, based on specific cutoffs and user-defined criteria
- CNV detection analysis
- Customised downstream variant analysis
* Please note that bespoke analyses might be subject to availability and resources, please contact us for more information.