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 wofkova@iabio.eu

Certification

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