Whole Exome Sequencing

The exome (the protein-coding region of the human genome) represents less than 2% of the genome, but contains ~85% of known disease-related variants.

For this reason, sequencing of the whole exome has the potential to uncover higher yield of relevant variants at a far lower cost than whole genome sequencing.

Whole exome sequencing is thought to be an efficient and powerful way to identify the genetic variants that affect heritable phenotypes, including important disease-causing mutations and natural variations.

Bio Basic Asia Pacific employs the Illumina HiSeq and Novaseq system to provide the fast and accurate whole exome sequencing and bioinformatics analysis.

Our highly experienced expert team executes quality management, following every procedure to ensure reliable results.

Bioinformatics Analysis


https://upload.wikimedia.org/wikipedia/commons/0/09/Exome_Sequencing_Workflow_1a.png
https://upload.wikimedia.org/wikipedia/commons/7/70/Exome_Sequencing_workflow_1b.png

  • Data Quality Control
  • Alignment with reference genome
  • SNP/InDel calling, statistics, and annotation
  • Somatic SNP/InDel calling, statistics, and annotation

(More analysis upon request)

Advantages

  • Identifies variants across a wide range of applications
  • Lower cost and wide availability
  • Achieves deeper coverage of coding regions
  • A smaller and more manageable data set for faster and easier analysis compared to whole genome sequencing

Sequencing Platforms 

HiSeq 4000/ HiSeq X Ten/ NovaSeq 6000

Analysis Workflow

For more information, feel free to contact us via NGS@biobasic-asia.com or +65 6928 9042.