Human genome sequencing
Learn more
Whole Genome Sequencing (WGS) on human-derived samples is transformative in both healthcare as research. It is the most comprehensive method to identify Single Nucleotide Variations (SNVs), small insertions/deletions (indels), Copy Number Variations (CNVs) as - to certain extend - large Structural Variations (SVs).
When interested in larger SVs (eg. deletions or duplications of > 10 kb), WGS combines nicely with Optical Genome Mapping.
When base-resolution pinpointing of breakpoints is a necessity, and if this breakpoint is not identifiable in the short-read WGS data, we can help using long-read WGS.
Sample types
Blood > DNA
EDTA tube
10 ml (min. 3 ml)
Room temperature
Cells of various tissue origins > DNA
Microtube* with cell pellet or on lysis buffer
> 5 million cells
Dry ice
Extra requirements
Minimum DNA concentration
DNA tube & plate - Diagnostic
Minimum: 20 ng/µl
A minimum concentration of 20 ng/µl is required, however succesfull experiments are possible below this limit.
Elution buffer : nuclease free water, Tris-HCl or TE
DNA tube & plate - Diagnostic
:
Please use nuclease free elution buffers, however this assay is compatible with either water, Tris-HCl as TE.
Minimum DNA quantity
DNA tube & plate - Diagnostic
Minimum: 500 ng
We prefer delivery of at least 1 µg of DNA
Deliverables
Below, you can find the type of data files that can be retrieved for this test.
If you require more information or need a more custom output, please consult our Bioinformatics page.
Run folder
The complete run folder can be transferred if it concerns a run reservation (private run)
RUO (on request)
Called variants - vcf file
Text file containing all detected variants as compared to the relevant reference genome
Diagnostic / RUO
Raw data - bam file
Binary data file containing the aligned reads
RUO (on request)
Raw data - fastq file
Data file containing the raw (unaligned) reads
RUO (on request)
Costs
Below, you can find indicative prices (excl. VAT) for all potential options you'd require to accomplish your project. If you are interested, please contact us to receive a tailored quotation.
Custom Bioinformatics (1 workday)
We can analyze your data, providing you with custom output (plots / tables / ...). Costs will be calculated pro-rata time spend. The indicated cost is for 1 workday (7,6h).
570€
2025
DNA qualification
Not sure about your DNA quality or working with degraded samples? We can assess the integrity on our capillary electrophoresis devices.
8€
2025
DNA quantification
Make sure we start with the correct DNA quantity and have us (re)quantify your samples.
2€
2025
Library Prep DNA (PCR-free)
When provided with your DNA samples at sufficient quality/quantity, we can create a PCR-free library. Costs include library prep, labor and QC steps.
50€
2025
Sequencing - NovaSeq - 30x Genome
You choose the platform to sequence your library. This cost includes sequencing, standard BioIT output, data transfer and 3 months data storage.
820€
2025
Documents & certificates
141-TEST (BRIGHTcore)
Plan experiment
For Diagnostics
This test is mainly performed as a diagnostic assay. In this case, please contact your General Practitioner or Clinical Geneticist (Centre for Medical Genetics of choice) to get the diagnosis started.
For Research
This test can also be applied in context of research. For this, please get approval from your local ethical committee and/or make proper arrangements with your Biobank.
Please follow the steps below to start up an experiment with us.
Get in touch (ONLY FOR NEW PROJECTS)
Explain your project, so we can assist you to find the best solution.
Expect questions like :
What type of sample would you like to analyze?
Which elution buffer did you use?
What are the expected concentrations of your samples?
How many samples would you like to process?
How fast do you need the results (TAT) and/or do we need to expedite?
If you deviate from our sample types, are there test samples available?
Are our standard deliverables ok?
...
1
Request quotation
Once you know which experiment you want to set up, fill out the 'Quote request' form, with the essential details of your project :
Coordinates of the person to whom to address the quotation
Which type of test you'd like to set up
Do you require a specific deliverable?
Do we need to expedite (comes at extra cost)?
...
2
Submit your samples
Once you agree with our terms (quote / TAT / terms & conditions) :
Fill out our sample submission form
Send it via email : contact us
Print out the form and include it with your samples
Send your samples to us
Label your tubes/plates correctly : see details here
Adhere to the corresponding transport conditions listed under Sample types
Indicate if we can discard your samples after completion of project
3
Your experiment starts
Now it is up to us... We will start your experiment as soon as possible.
When expedited, the turn-around-time (TAT) is 1 month
For standard requests the turn-around-time (TAT) is 2 months
The standard TAT is generally overestimated, but this extended timeframe allows us to : combine similar requests of multiple scientists and to repeat the experiment in case of issues.
Please refrain from contacting us in case the pre-agreed TAT didn't expire yet.
