Whole Exome Sequencing

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Choose efficient, cost-effective sequencing focused on protein-coding regions. Our whole exome sequencing (WES) service lets you choose from a range of industry-leading library prep kits for hybridization enrichment – including those from Agilent and Twist – to make sure you get the reliable libraries you need.

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Whole exome sequencing (WES) is a targeted approach that makes it possible to identify variations in the protein-coding part of a genome. In humans, only around 1% of the genome consists of exomes. However, most disease-related genetic variants occur in exons, making these regions crucial to many genetic studies.

WES can provide insights into the genetic origins of Mendelian diseases or traits that are hard to study with conventional gene discovery strategies. Exome sequencing of parent–child trios is also a highly effective approach for identifying de novo coding mutations of a disease, as it is very unlikely that multiple de novo events occur in one specific gene.

Many commercially available library preparation kits for target enrichment use hybridization capture with magnetic beads. At Macrogen Europe, we offer several industry-leading kits for our WES service depending on your needs.

Library preparation kits

  • Agilent SureSelect Human All Exon
  • Twist Human Core Exome
  • Agilent SureSelectXT Mouse All Exon

Sequencing platforms

  • Illumina: NovaSeq 6000, HiSeq

Data analysis

Standard analysis

  • alignment (read mapping to hg19 or hg38 reference genome)
  • variant calling (SNPs, indels)
  • annotation to various databases

Advanced analysis

  • copy number variation (CNV)
  • tumor–wild type paired analysis
  • family/trio analysis
  • population analysis
  • virulotyping
  • custom mapping, annotations, algorithms and analyses
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