A gene panel covers a distinct set of regions within the genome. Prior to high throughput sequencing, the selected set of target genes is enriched and only these selected targets will be sequenced. With this method, genes of interest can be examined in many samples at once with a high coverage and a reduced percentage of underrepresented regions. Furthermore, only smaller and more manageable data sets are needed for analysis.
CeGaT has been using this concept in genetic diagnostics since 2009. Based on our long-standing expertise we can offer our predesigned CeGaT Panels for your research project or assist you in individual Custom Panel design with subsequent panel validation.
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We are happy to discuss sequencing options and find a solution specifically tailored to your clinical study or 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.
For a project using our predesigned CeGaT Panel: Sequencing data are delivered within 20-30 working days. A fast track option is available upon request.
For individual Custom Panel design: Delivery times for panels and the time needed for validation depends on the complexity of the panel you want to design with us.
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.
The original samples, and, if applicable, the isolated nucleic acids will be stored at CeGaT for a period of 3 months after data delivery.
Data will be stored for 5 months on our system after data delivery.
For CeGaT Panels raw sequencing data are automatically processed in order to facilitate immediate genetic evaluation. We deliver demultiplexed, adapter trimmed, filtered FASTQ files (.fastq.gz), including alignment of sequencing data (.bam/.bai), calling of sequence variants (.vcf) and annotation (.tsv). Further calling of deletions and duplications and affected gene comparisons between multiple samples is possible. Other statistical evaluations can be offered on request.
When you design your Custom Panel with us, the data format for delivery and individual data analysis can be defined depending on your needs.
When you choose one of our predesigned CeGaT Panels you can rely on our expertise in sequencing. The CeGaT Panel design is based on scientific evaluation of the respective disease, and panels are updated on regular basis. More than 99 % of the targets of all CeGaT Panels are sequenced with at least 30x coverage.
Individual Custom Panels can also be designed according to your personal request. We can assist you in target definition and will validate your individual Custom Panel according to diagnostic grade quality approved standards: CAP and ISO:15189.
We suggest paired-end sequencing of CeGaT Panel-enriched libraries (2x 100 bp) using the state-of-the-art Illumina NovaSeq6000 Sequencing System. Alternatively, other read length options will be offered, if you require other defined sequencing parameters.