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 a solution specifically tailored to your clinical study or research project.

Please specify sample information including starting material, number of samples, preferred protocol, preferred sequencing depth and required bioinformatics.

Turnaround time

Sequencing data are delivered within 15 – 20 working days. A fast track option is available upon request for larger batch sizes. The turnaround time (TAT) depends on the quality of the provided DNA, and the requested bioinformatics level.

Delivery

Your sequencing data will be available for download from one of our servers (FTAPI or SFTP). Upon request, as well as for large sample batches, data can also be delivered via external hard drive or uploaded to your own server.

Storage

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.

Bioinformatics

Raw sequencing data are automatically processed to facilitate immediate genetic evaluation of the samples. We deliver demultiplexed, and adapter trimmed FASTQ files.

Further options for bioinformatic analyses using Illumina DRAGEN Bio-IT platform are available:

  • Mapped data (BAM file), coverage distribution (BEDGRAPH file) and plot of the coverage distribution (PDF file)
  • Single nucleotide variants (SNVs) and small indel calling without annotation
  • Detection of structural variant (SVs), such as translocations, inversions as well as large and medium-sized indels without annotation
  • Copy number variation (CNV) calling
  • Prediction of ploidy of sex chromosomes for human samples (CSV file)

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 other than those presented in our product portfolio, please let us know! We can provide other solutions.

Explore our whole genome sequencing product portfolio

WGS Large Classic

Species
Human, Murine

DNA quality
High molecular weight DNA

Protocol
+/– PCR amplification

Sequencing technology
Illumina

Output
90 Gb, approximately 30x coverage*

Sequencing data
FASTQ

WGS Small Classic

Species
Microorganisms (genome size less than 20 Mb)

DNA quality
High molecular weight DNA

Protocol
+/– PCR amplification

Sequencing technology
Illumina

Output
2 Gb

Sequencing data
FASTQ

WGS Flex

Species
Diverse

DNA quality
Variable DNA quality (e.g. fragmented DNA)

Protocol
+/– PCR amplification

Sequencing technology
Illumina

Output
Flexible

Sequencing data
FASTQ

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