Genome Sequencing

The genome represents the entire genetic information of an organism. The use of next-generation sequencing (NGS) technology allows a whole-genome sequencing and thereby to get the most comprehensive collection of an individual’s genetic information. By comparing the individual to a reference genome, variations can be studied. Only by sequencing the complete genome all types of variation can be analyzed: single-nucleotide variants, small insertions and deletions, copy-number changes, and structural variants. The findings play a crucial role in many research activities such as cancer studies, personalized medicine approaches and translational research.

Dedicated support – high quality results

When processing your sequencing order, we focus on delivering results with high quality and reliability. Each project is led by a scientific project manager, who will be your contact person during the entire project phase. Upon completion of your project, you will receive a detailed project report with further information regarding sample QC, important laboratory parameters and bioinformatic evaluation and explanations.

Genome sequencing at a glance

  • Library preparation by Illumina technology
  • Sequencing on Illumina state-of-the-art sequencers
  • Large variety of bioinformatic analysis options
  • Turnaround time: 2-4 weeks
  • Detailed project reporting

QC standards

  • Sequencing quality standard – Q30 > 80%
  • Diagnostic grade quality management routines available

Start your project now

Please do not hesitate to contact us – we are happy to design an individual concept for your project.

If possible please provide us with information about sample material, number of samples and preferred sequencing depth.

Sample requirements

  • Ultra-low input protocol option available as low as 1 ng

Regular input

  • DNA: ≥ 500 ng high molecular DNA
  • DNA concentration: ≥ 20 ng/μL
  • DNA volume: ≥ 20 μL

Customization options

  • Large number of possible sample materials besides DNA, e.g. EDTA-blood, saliva, FFPE-tissue, dried blood spot cards, and many more
  • Library preparation protocol can be adapted to customer needs. PCR-free protocol available
  • Processing of fragmented/degraded DNA
  • Sequencing output can be adapted in increments of 2 Gbp


Data transfer via download (secure server) or shipping
on HDD available.

Research bioinformatics package

  • Alignment to the reference genome hg19
  • Calling of genome-wide SNPs and InDels without annotation
  • Calling of genome-wide CNVs
  • Illustration of genome-wide CNVs
  • Coverage profiling of genome-wide CNVs
  • Calling of genome-wide structural variants

Diagnostic bioinformatics package

  • Alignment to hg19
  • Calling of exome-wide variants in diagnostic variants
  • CeGaT diagnostic variant calling