Rare Diseases
Big data is seldom a term associated with rare disease. However, robust and in-depth analyses of data, however large or small, can help answer key questions about the genetic origins or the mechanisms behind rare diseases.
Our analyses have supported important findings in the study of Wilson’s disease and Prader-Willi Syndrome, amongst others.
How we can help your rare disease research
By combining our expertise in bioinformatics analysis with our knowledge in rare diseases, our bioinformatics services can help with:
- Computation of differentially expressed genes and pathways
- Analysis of immune context for specific rare diseases
- Data landscaping of publicly available data sources to assess literature for specific diseases of interest
- Data mining of publicly available datasets for diseases of interest
Our bespoke solutions utilise state-of-the-art approaches, tailored to the data types and requirements of each project.
Projects we have helped with
- Data landscaping of publicly available data sources to assess literature across five rare diseases
- Data mining and analysis of over 50 identified public datasets for multiple rare diseases
- Identification of differentially expressed genes and pathways for multiple auto-immune datasets
For publications, visit our dedicated Publications page.
Getting Your Data Ready For Analysis
We can analyse:
- Recent data, generated within your own laboratory or that of a 3rd party provider
- In-house historic data
- Data sourced from the public domain.
While we prefer to receive data in the raw format (eg .CEL files) we can also receive pre-normalised files.
If you have yet to generate the data, we can help by arranging for the generation of your data through one of our preferred laboratory service partners. Alternatively, we are able to source and mine data from available databases. We are happy to work with you at every stage of your study to ensure the best outcome for your research.
Our Reports
Our analysis reports at Fios are provided as an HTML link hosted on our secure server. The secure link leads the user to a password-protected HTML document which is clickable, searchable and dynamic. This format allows you to easily interrogate and explore your data. Additionally, all methods, tools and thresholds are fully documented within the report.
At Fios Genomics, we are completely data driven. Whatever your research area, we offer support at every stage of your research and for different purposes:
Discovery
Selecting the correct targets and/or the correct indication is essential for development success. We help support the process with robust analysis of historic or new data.
Preclinical Research
We help in experimental design and statistical analysis and guide our clients in making informed decisions during the preclinical stage.
Clinical
Research
We offer a comprehensive analysis approach for augmenting clinical trial outcomes, ensuring you get the most information out of your research.
Drug Repurposing
We have strong experience with identifying in silico new potential indications for existing drugs, reducing the cost and time of downstream wet lab validation.
