High-quality exome sequencing focused on the most relevant regions of the genome
The exome represents the entirety of all known coding exons of the human genome. Although only comprising 1 % – 2 % of the genome, a total of 89 % of all known disease-causing mutations are estimated to be located in these regions. Therefore, it is often reasonable to perform a targeted exome analysis. Application areas and objectives for exome sequencing are diverse and range from research on population genetics, genetic disorders or rare disease to tumor research.
CeGaT has broad experience in exome sequencing and offers a comprehensive service from DNA extraction from many materials to tailored data analysis. For data analysis, our clients benefit from our longstanding experience in human genetics and expertise in the tumor diagnostics field.
Our focus lies on delivering high quality results while processing sequencing orders. Each project is supervised by a scientist who is a dedicated project manager and contact person during the entire course of the project. Upon completion of a project, our customers receive a detailed report containing information regarding sample quality, sequencing parameters, bioinformatic analyses and references.
Turnaround time
Sequencing raw data are delivered within 15 – 20 working days.
Fast track option is available on request.
The turnaround time (TAT) depends on provided starting material and required bioinformatics level.
Delivery
Your sequencing data will be available for download from our server.
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, as the case may be, the isolated nucleic acid will be stored at CeGaT for 3 months after delivery of the data.
Your data will be stored for 5 months on our system after data delivery.
EXPLORE OUR EXOME SEQUENCING PRODUCT PORTFOLIO
WES Basic
Species
Human
DNA quality
High molecular weight DNA
Target enrichment
Twist Bioscience
Targeted region
Whole exomic regions plus mitochondrial genome (Twist), 37 Mb
Sequencing technology
Illumina
Output
6 Gb, approximately 50x coverage*
Deliverables
Project report & FASTQ files
WES Classic
Species
Human
DNA quality
High molecular weight DNA
Target enrichment
Twist Bioscience
Targeted region
Whole exomic regions plus mitochondrial genome (Twist), 37 Mb
Sequencing technology
Illumina
Output
12 Gb, approximately 100x coverage*
Deliverables
Project report & FASTQ files
WES Premium
Species
Human
DNA quality
Various/poor quality (e.g. fragmented DNA, low input)
Target enrichment
Twist Bioscience
Targeted region
Whole exomic regions plus mitochondrial genome (Twist), 37 Mb
Sequencing technology
Illumina
Output
12 Gb, approximately 100x coverage*
Deliverables
Project report & FASTQ files
WES Premium Deep
Species
Human
DNA quality
Various/poor quality (e.g. fragmented DNA, low input)
Target enrichment
Twist Bioscience
Targeted region
Whole exomic regions plus mitochondrial genome (Twist), 37 Mb
Sequencing technology
Illumina
Output
24 Gb, approximately 150x coverage*
Deliverables
Project report & FASTQ files
WES Flex
Species
Human, murine
DNA quality
Depends on chosen protocol
Target enrichment
Twist Bioscience; Agilent Sure Select
Targeted region
Core exomic regions (Twist), 33 Mb
Whole exomic regions (Agilent), 35,7 Mb
Whole exomic regions plus mitochondrial genome (Twist), 37 Mb
Sequencing technology
Illumina
Output
Flexible
Deliverables
Project report & FASTQ files
* Depends on the quality of the starting material
Bioinformatics
Raw sequencing data are automatically processed to facilitate immediate genetic evaluation of the samples. We deliver demultiplexed, and adapter trimmed FASTQ files. Further bioinformatic options are available:
- Alignment of sequencing data (BAM format)
- Calling of Single nucleotide variants (SNVs) and inserts and deletions (indels)
- Annotation of SNVs and indels (variant frequency and consequence, population frequency, dbSNP ID, position in protein, GNOMAD)
- Copy number variation (CNVs) and large homozygous deletion calling
- Variant comparisons in multiple samples, e.g. family-based (trio) filtering
- Cancer somatic mutation analysis (tumor and normal samples required)
- HLA class I typing based on exome sequencing data
Technical Information
At CeGaT, paired-end sequencing (2 x 100 bp) is performed using state-of-the-art Illumina NovaSeq 6000 Sequencing Systems.
If you require sequencing parameters other than those presented in our product portfolio, please let us know! We can provide further solutions.
Contact Us
Start Your Project Now
We are happy to discuss sequencing options and to find a solution specifically tailored to your clinical study or research project.
When getting in contact, please specify sample information including starting material, number of samples, preferred library prep option, preferred sequencing depth and required bioinformatics, if possible.
Further Reading
