IntegraGen Genomics provides first-in-class exome sequencing service for researchers with the latest high-throughput sequencing technologies and proprietary analytical tools for analyzing data. We help our customers to identify mutations in rare and complex diseases and in oncology.

Exome sequencing  enables researchers to target the protein coding regions of the genome reducing both the cost of sequencing as well as data storage and analysis costs. This enables researchers to increase sample numbers better enabling the study of larger populations. 

Our Experience

  • Our lab has sequenced over 7,000 exomes since 2010HiSeq 4000 and Primadiag
  • Experience working with world renowned researchers across a large variety of fields of genomics research including:
    • Rare genetic diseases
    • Complex diseases
    • Oncology
  • Experienced with the operation of clinical grade sequencing platforms for oncology exome and RNA sequencing projects
  • Numerous customer publications based on results from research projects

We have a robust quality control (QC) system incorporated into each critical step of the sequencing process and a continuous quality improvement (CQI) program for our laboratory protocols and analysis of sequencing data.

How we add Value

  • integragen-genomics-gecoAbility to process DNA from samples with low DNA quantities or degraded samples (FFPE).
  • Decreased turnaround time as a result of access to newer technologies including
  • Expertise in the design of genomic research projects
  • Expert insight and assistance with results handling and data interpretation

Technical guarantees

  • Agilent Certified SP MBGA 4cGold standard capture kits for various applications
  • Useful sequencing depth guarantees 85% coverage at 25X minimum
    • Minimal depth depends on your project’s goals
    • Recommended standard: 70X for constitutional and minimum 100X for tumors
    • Any depth available upon request
  • Extended QC including positive sample tracking
    • concordance of 48 SNP positions between DNA exome sequencing results and DNA genotyping by allele-specific PCR

Bioinformatics and Data Analysis

  • ERIS and OSCARSpecific bioinformatics pipeline to address either Mendelian genetic diseases or somatic cancer analysis
  • Includes CNV analysis
  • Access to ERIS, our proprietary online software tool which assists with variant selection and samples comparison
  • Access to clinical grade sequencing results using OSCAR, our proprietary software application that provides a simplified approach to the delivery and visualization of  whole exome and transcriptome sequencing data
  • Advanced analysis available using GeCo service:
    • Mutational signatures and chromosomal aberrations
    • Pathways analysis