IAB Genome

IAB Genome

IAB Genome is the flagship of IAB products.  Undesirable errors occurring during PCR steps within library preparation are eliminated by using a PCR-free kit (illumina) for the preparation of WGS libraries. The maximum sequencing yield of each sample is ensured by the pre-sequencing step on the iSeq platform. All samples are always prepared with the same workflow to deliver reliable data needed for research or clinical diagnostics.

Sample requirement

  • genomic DNA
  • DNA concentration: ≥ 50 ng/µl
  • Minimum sample volume: 25 µl 

Kit for library preparation

  • Illumina TruSeq DNA PCR free (Illumina) 

Library QC and pre-sequencing

  • Library QC
  • iSeq 100 (Illumina)
  • Pair-end sequencing 2×150 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 2×150 bp
    • Read depth >30x
    • Internal standard – PhiX Spike-in
    • BaseSpace Sequencing Hub for data storage and sharing

Data QC

  • Guaranteed Phred Q30 > 80% bases (sequencing mode 2x100bp)
  • Recommended average read depth:  ≥ 30x

Bioinformatic analysis

  • advanced data QC and filtering
  • reference genome mapping (hg38 / GRCh38)
  • germline and somatic SNP/InDel detection
  • variants annotations

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