Research studies on the human genome might be very challenging due to its complexity. Together with Blueprint Genetics you can continue to push the boundaries of our understanding of the human genome, which may lead to significant breakthroughs in science and medicine, offering profound insights into human biology and disease.
Why whole-genome sequencing?
- Provides a high-resolution, base-by-base view of the genome
- Captures both large and small variants that might be missed with targeted approaches
- Identifies potential causative variants for further follow-up studies of gene expression and regulation mechanisms
- Delivers large volumes of data in a short amount of time to support further research studies
Blueprint Genetics WGS standard package
- Our next-generation sequencing delivers an average coverage depth of 30X, with occasional slight variations, while maintaining strict quality standards for reliable and accurate results
- >90% of the bases in the accessible regions of human genome are covered at ≥15x
- ≥85% of bases with quality score of ≥Q30
| Sample Type | DNA, blood, saliva* |
| Turnaround time** | 2-3 weeks |
| Coverage | 30x mean coverage |
| Variants
|
SNVs, Indels, CNVs, basic repeat expansions, structural variants, mitochondrial variants, basic annotations |
* Saliva sample type available only for custom projects using sample kits specified by Blueprint Genetics.
** Turnaround time is calculated from the time the sample is received in the laboratory with all required information.
Available sequencing data file types:
Blueprint Genetics delivers a variety of sequencing service file types, depending on your research
purposes. For the standard WGS projects, we provide:
- FASTQ
- CRAM
- VCF
- Additionally: md5sum file for confirming the integrity of the downloaded vcf and CRAM file(s)
Your data will be available for a download for 30 days after it’s generated.
You are the sole data owner and controller. You operate as the controller, and Blueprint Genetics will not use sequencing data for any other purposes than to perform the service.
For more information on data protection and privacy, click here.
For further questions and custom projects, please contact your designated service support at sequencing@BlueprintGenetics.com
- Troubleshoot technical issues
- Provide guidance on sequencing services selection
- Offer assistance with order placement
- Discuss sequencing data delivery options
- Email: sequencing@blueprintgenetics.com