AGTC Genomics

Whole Exome Sequencing

Whole exome sequencing (WES) employs next-generation sequencing technology (NGS), which provides a cost-efficient alternative to whole genome sequencing (WGS). The human whole exome, composed by about 180,000 exons (protein-coding region of the genome) accounts for only 1-2% of the human genome, but up to 85% of the disease-related mutations associated with Mendelian disorders occur in these regions. By targeting these regions, human whole exome sequencing (hWES) provides an in-depth sequencing and analysis approach to indicate genome variants, germline mutations, somatic mutations, and pathogenic mechanisms. hWES service supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.

Overview

Human Whole Exome Sequencing (hWES) provides an in-depth sequencing and analysis approach to indicate genome variants, germline mutations, somatic mutations, and pathogenic mechanisms. hWES service supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.

Our hWES services provide you with the quality, reliability, and speed that come as a result of our experience sequencing more than a quarter million exomes. Optimized for depth and evenness of coverage, with high sensitivity to detect SNVs and indels.

What’s Included

  • Sample Receipt and Initial QC
  • Library Construction and QC
  • Sequencing and Data Delivery

Data Deliverable

  • Data accessed via secure online digital transfer
  • SNP and InDel calling
  • Somatic SNP/InDel/CNV mutation detection (tumor-normal paired samples)
  • Germline Variant Call Format (VCF) files

Whole Exome Services

Service Utility DNA Input Compatible Extractions Coverage
Germline Exome Non-cancer, including population genomics, rare and common disease cohort studies 100 ng Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats 20X
Somatic Exome Standard Coverage Control for case-control tumor/normal & trio/somatic analysis 100 ng Fresh frozen tissue, blood, FFPE* saliva, cell pellets, or buffy coat 100X
Somatic Exome Deep Coverage Case/proband for case-control tumor/normal & trio/somatic analysis 100 ng Fresh frozen tissue, blood, FFPE* saliva, cell pellets, or buffy coat 100X

* Due to the inherent nature of samples derived from FFPE to contain degraded and crosslinked nucleic acids, all samples submitted are accepted “on risk” and subject to billing regardless of data quality.