Genome Sequencing

Get the most comprehensive collection of an individual’s genetic information

About Genome Sequencing

The genome represents the entire genetic information of an organism. Analyzing the whole genome using next-generation sequencing (NGS) technology provides the most comprehensive collection of an individual’s genetic information. By comparing the individual to a reference genome, variations can be studied. These alterations can include single-nucleotide variants (SNVs), small insertions and deletions (InDels), copy-number variations (CNVs), and structural variants (SVs).

WGS studies contribute to:

  • Cancer studies, personalized medicine approaches, translational research
  • Discovery of biomarkers and understanding pharmacogenetics
  • Rare disease research
  • Plant and animal breeding programs
  • Examination of microorganisms

Using CeGaT as sequencing partner you will benefit from our long-standing expertise in genetic diagnostics. High quality standards are maintained during the entire process from sample receipt to library preparation, sequencing, and bioinformatic analysis.

Start Your Project Now

We are happy to discuss sequencing options and find an individual solution for your research project.

You help us by specifying sample information including starting material, number of samples, preferred library prep option, preferred sequencing depth and required bioinformatics.

Turnaround time

Sequencing data are delivered within 20 – 30 business days. A fast track option is available upon request. The turnaround time depends on provided DNA quality and required bioinformatics level.


Up to 70 Gigabyte data will be available for download from our download portal FTAPI, a secure end-to-end encrypted system. On request and for large batches, data will be available on external hard drive. Alternatively, data can be uploaded to your own server, please contact us for more details.


The original samples, and, if applicable, the isolated nucleic acids will be stored at CeGaT for 3 months after data delivery.

Data will be irrevocably deleted after 5 months.


Raw sequencing data are automatically processed to facilitate immediate genetic evaluation of the samples. Included in delivery are demultiplexed, and adapter trimmed FastQ files.

Further bioinformatic options are available:

Research Package

  • Alignment of trimmed sequencing data to human genome (hg19)
  • Calling of structural variant (SVs), medium-sized indels and large insertions
  • Copy number variation (CNV) calling
  • SNPs and small indel calling

Diagnostic Package

  • Alignment of trimmed sequencing data to human genome (hg19)
  • SNPs and small indel calling including annotation within coding regions

Technical Information

At CeGaT, paired-end sequencing is performed on state-of-the-art Illumina NovaSeq 6000 Sequencing Systems.

WGS samples are typically sequenced in 2 x 150 bp mode.

If you require deviating sequencing parameters than presented in our product portfolio, please let us know! We can provide other solutions.

Explore our whole genome sequencing product portfolio

WGS Large ClassicWGS Small ClassicWGS Flex
SpeciesHuman, MurineMicroorganisms
(genome size less than 20 Mb)
DNA qualityHigh molecular weight DNAHigh molecular weight DNAVariable DNA quality
(e.g. fragmented DNA)
Protocol+/– PCR amplification+ PCR amplification+/– PCR amplification
Sequencing technologyIlluminaIlluminaIllumina
Output90 Gb
30x coverage*
2 GbFlexible

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