Whole Exome Sequencing (WES)

Exome sequencing would be the most cost-effective approach for sequencing the targeted coding region of a genome, a region that comprises 1–2% of the genome but represents 80–90% of variants found in the entire genome. Therefore, it would be a perfect solution for cancer and genetic-related studies as well as human population studies.

In comparison with WGS (whole genome sequencing), 10–20 times less output is required to analyse SNP (single nucleotide polymorphisms) and Indels, meaning the variant analysis is easier, faster and uses fewer computation resources than the WGS approach.

Commonly used human WES capture kits include Agilent Sureselect Exome Capture kit and Truseq DNA Exome kit on Hiseq and Novaseq6000 series.

Standard data analysis includes:

Standard Data Analysis

– Analysis of mapping statistics
– SNPs and InDels calling
– Variant list in VCF or Excel formats

Advanced Data Analysis

– Cancer analysis/ Family analysis (e.g. TRIO)/ Population analysis

Phasing information

– Please enquiry to find out more about WES using 10X technology

Customised Targeted Resequencing

Macorgen offers to carry out targeted gene/DNA sequencing of known regions of genomes, allowing researchers to focus on and analyse specific areas of interest. We work with the Agilent Sureselect team and use the Iluumina Truseq Custom amplicon kit to design the bait of the capture probes.

This method is advantageous over WGS or WES in terms of cost. It requires less analysis and a high level of coverage is common so rare variants can be found more efficiently.

For humans, there are several panels available that might fit project purposes. Some examples are as follows:

Cancel Panels

  • Ion AmpliSeq Cancer Hospot Panel v2
  • Ion AmpliSeq Compregensive Cancer Panel
  • TruSight Cancer Content Set

Inherited disease panels

  • Ion AmpliSeq Cancer Hospot Panel v2
  • Ion AmpliSeq Compregensive Cancer Panel
  • TruSight Cancer Content Set

Commercial panels

  • HLA / Cancer / Tumor / Cardiomyopathy / Trusight One
  • TruSight Ingerited Disease / Autism
  • TP53 Panel / CFTR Panel
  • BRCA1 and BRCA2 Panel
  • Colon and Lung Cancer Panel v2
  • Dementia Research Gene Panel
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