Identification of human genetics disease causing mutations is our business

OUR VISION

BRING THE POWER OF BIOINFORMATICS TO MEDICAL GENOMICS

 

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.

 

UMD PREDICTOR

Single Nucleotide Substitutions (SNP) represent the majority of human genetics variations with about 80,000 variants per human exome and more than 3,000,000 ​ variations per human genome. SNPs also account for most human disease-causing mutations with approximately 56% of missense and nonsense mutations. If classifying nonsense mutations as disease-causing is trivial, the classification of missense or synonymous mutations is challenging.

The UMD-Predictor system is an innovative bioinformatics solution to predict the pathogenicity of any SNP from any human transcript. It relies on an original combinatorial approach that consistently outperformed other predictors as illustrated in the figure adapted from Salgado et al. 2016.

 

Human Splicing Finder

If most human disease-causing mutations are localized in exons, it is now recognized that from 10 to 30% of those mutations are not pathogenic because of their impact on proteins but because of their impact on splicing. This, coupled with intronic disease-causing mutations, makes the study of splicing signals a key element of mutations analysis. 

The HSF system is dedicated to the identification of all splicing signals including acceptor and donor splice sites, branch points and auxiliary splicing signals (ESE and ESS). It combines multiple algorithms and matrices in a one-stop-shop for splicing signals. Furthermore, it contains an expert system to digest all predictions and provide users with an easy to understand pathogenicity prediction for any intronic or exonic mutation potentially affecting splicing. It is today the reference system for such analysis as illustrated by the thousands of citations in the literature.

 

OUR SERVICES

As a bioinformatics company dedicated to human genetics, Genomnis might assist you in multiple ways:

- Help you in genomics, Chipseq or transcriptomics experiments from start to finish (design to results) 

- Help you to analyze your genomics, Chipseq or transcriptomics data (data analysis by experts)

- Create unique bioinformatics systems to answer your needs from any translational research step

- Help you to select AON to induce exon-skipping from any human transcript, either to restore a functional protein or to silence a gene

- Help you to select patients for nonsense read through therapeutic strategies

- Help you to set-up databases associated to specific algorithms to store your precious data and extract knowledge

- and many more ...

 
OUR ADDRESS

Hôtel Technologique, 45 rue Frédéric Joliot-Curie – CS 10002 Technopôle de Château-Gombert – 13382 Marseille, France

E-mail : contact@genomnis.com
Tél :  +33 (0)6 35 35 08 53

CONTACT

GENOMNIS

You can contact us via this form

GenOmnis - SAS au capital de 30 000€. Immatriculée sous le n° 830 669 024 RCS Marseille. Identifiant CE FR 66 830669024

N° SIREN : 830 669 024. N° APE 6201Z. Siège social : Hôtel Technologique, 45 rue Frédéric Joliot-Curie, 13 382 Marseille Cede 13, France

 
 

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