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Whole-genome, Exome and Targeted sequencing Analysis

Figure shows the substitution of 4.5kb portion of mm9 genomic reference with a transgene. Figure shows the substitution of 4.5kb portion of mm9 genomic reference with a transgene. Whole-Genome Sequencing (WGS) is a process that determines the complete DNA sequence of an organism's genome. This type of sequencing is mainly used in projects aimed at detecting the presence of SNPs, Indels and structural variants in a sample.

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.