During the last 10 years, medical genetics has drastically changed with the emergence of new sequencing technologies. It is thus now possible to sequence individual genomes in few hours. The challenge is therefore not anymore to generate the data but to efficiently identify disease-causing mutations among millions of variations: the “search a needle in a haystack” challenge.
Thanks to a fruitful partnership with experts from renown academic bioinformatics research teams from the Aix-Marseille University (AMU) and the French National Institute of Health and Medical Research (Inserm), the Genomnis company is providing the most efficient systems to predict the pathogenicity of mutations from any human gene. The Human Splicing Finder system allows the identification of splicing signals and the impact of mutations on these signals, while the UMD-Predictor system is dedicated to the prediction of exonic substitutions.
Genomnis is also providing services to assist you to design your experiments and analyze data.
Our vision is to provide you the power of bioinformatics coupled with the experience of genetics experts to simplify your genomics journey.