GOSgene Mutation Discovery

CLOSED: GOSgene is dedicated to providing better understanding of rare diseases and to facilitate better understanding of the underlying molecular basis of disease.

What we do?

GOSgene was established in 2010 to facilitate gene identification in uncharacterised genetic diseases. GOSgene Discovery continues to bring research expertise to scientists and clinicians working with childhood disorders, enabling the discovery of genetic mutations.

Would you like to collaborate on a project with GOSgene?

GOSgene Discovery enables the identification of the causes of genetic disease. Our philosophy is to work collaboratively using shared knowledge and expertise to identify causative mutations. 

We have optimised and benchmarked analytical workflows for variant identification and interpretation of genomic sequence data. Additionally, we can offer a flexible strategy depending on the availability of clinical samples. The use of multiple technologies to complement genomic sequence information will facilitate the identification of causative variants leading to disease. 

How to apply?

Applications are accepted on a rolling basis and assessed routinely by the GOSgene Executive Management Committee prior to approval. Once accepted, GOSgene will handle QC and processing of your samples, data generation and analysis. We will provide a detailed report of our findings, with personal consultation, and interpretation of the results.

If you work with a family with a genetic disorder of unknown origin and would like to collaborate with GOSgene please contact Dr Dan Kelberman to discuss further or download a project application form (169.3 KB). NB - we are currently not taking on any more projects at this time (updated May 28th 2019)