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Research Services

Whole Exome
Sequencing

Applications

  • Population genomics

  • Identification of somatic mutations in cancer

  • Rare disease studies

  • Biobanking projects

Scientist using microscope

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.

Mutations chart: gender, smoking status, and gene frequency data visualization for research.
Collaborate with us

AGTC Genomics collaborates with researchers to apply genomics, multi-omics, and data-driven insights across discovery, translation, and development—accelerating innovation and real-world health impact.

Advancing Research with Human Whole Exome Sequencing

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

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Our WES 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.

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