Exome Sequencing

A delineated approach, Exome Sequencing (Exome-Seq) presents an attractive alternative to Whole Genome Sequencing (WGS). With a specific focus on just the exome, which essentially refers to the coding region within a genome, Exome-Seq achieves ten times the coverage for a fraction of the cost (one fifth) compared to WGS. The iterative detailing of the data amassed from Exome-Seq can be very resourceful for teasing out, with high precision and reliability, single-nucleotide variants and de novo mutations associated with both Mendelian and common diseases. As a leading service provider, premium Exome-Seq services can be tailored to suit any project with an overall turnaround time of only 2-4 weeks.

Key features for Exome-Seq service

• Sequence the protein coding regions of the genome for a fraction of the cost of Whole Genome Sequencing.
• Alternative coverage levels of <30X, 30-100X and >100X can be completed, simply inquire for a quote.Enable identification of:
  • rare and common single-nucleotide variants (SNV’s).
  • de novo
• Guaranteed, high-quality data read-out of sample(s).
• Illumina Nextera Rapid Capture Exome kit delivers 45Mb of exonic coverage.

For each service, the results are provided in industry standard FASTQ format (default), while the exome-seq analysis package also delivers the alignment .bam file, as well as the list of detected variants in .vcf format.

The kit used for exome enrichment library prep is Illumina’s TruSeq Rapid Exome Library Prep Kit, which delivers an average of 75% of on-target sequencing reads. The On-target Coverage Depth is calculated based on

an average of 75% on-target sequencing reads, thus the actual on-target percentage of your sample may vary. Alternative enrichment kits can be requested at an additional cost.