IAB Exome

IAB Exome

The IAB Exome represents a cost-effective alternative to whole-genome sequencing. This solution targets clinically relevant exome regions, allowing the identification of rare variants at a high level of uniformity. Exome sequencing is beneficial for studies focused on cancer, complex diseases, rare diseases, or Mendelian disorders or human population studies. The IAB Exome sequencing service offers affordable and at the same time high-quality results generated by using Human Core Exome Kit, Twist Biosciences, and sequencing platform NovaSeq 6000, Illumina.

The experienced team follows IAB Exome workflow with the strict quality procedures to perform the essential QC steps on your samples and generate reliable and repeatable results. A customized workflow is available.

 

Sample requirement

  • Human genomic DNA
  • DNA concentration: ≥ 20 ng/µl
  • Minimum sample volume: 20 µl
  • Dissolved in NF- H2O

Kit for library preparation 

  • Human Core Exome Kit (Twist Bioscience) 
  • 33.2 Mb CCDS coverage (35.9. RefSeq, 34.8 GENCODE v28)
  • 99,2 % ClinVar variants
  • 99,3%  target areas covered (coverage 20x corresponding to 5.3 GB of data)

Library QC and Pre-sequencing

  • Library QC
  • iSeq 100 (Illumina)
  • Pair-end sequencing 2×100 bp
  • Evaluation of equimolarity of libraries 
  • Accurate determination of adapter-dimers
  • Optimization of loading concentration for further sequencing

Sequencing

    • NovaSeq 6000 (Illumina)
    • Pair-end sequencing 2×100 bp
    • Internal standard – PhiX Spike-in
    • BaseSpace Sequencing Hub for data storage and sharing

Data QC 

  • Guaranteed Phred Q30 > 80% bases (sequencing mode 2x100bp)
  • Recommended read depth: 
  •  germline variants ≥ 50x
  •  somatic variants ≥ 150x

Bioinformatic analysis

  • demultiplexing
  • quality control and filtering
  • reference genome mapping (hg38 / GRCh38)
  • germline and somatic SNP/InDel detection
  • variants annotation

Delivery time

  • 8 weeks since sample delivery to the data output
  • accelerated service on request fedic@iabio.eu

Certification

  • ČSN EN ISO 9001:2016
  • ČSN EN ISO 13485 ed.2:2016