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Our variant annotation, classification, curation and reporting tool omnomicsNGS is currently being used as part of a ground-breaking multi-omics research project to study autism spectrum disorders.

The GEMMA project (Genome, Environment, Microbiome and Metabolome in Autism), funded as part of the EU H2020 initiative, brings together some of the best research institutes in the world, along with private companies such as Euformatics to leverage their strengths in multi-omics.

The project is comprised of a global set of partners, including MassGeneral Children’s Hospital and Johns Hopkins University in the US, Imperial College London in the UK, led by EBRIS (European Biochemical Research Institute of Salerno) as well as a collection of other high-profile members throughout Europe, including Euformatics. Euformatics role in the project focuses on the genomic data analysis, using our omnomicsNGS software tool.

omnomicsNGS for WGS:

We have just received 37 Whole Genome Sequences (WGS) from a GEMMA cohort of patients at MassGen in Boston and are beginning our work to analyse each sample. omnomicsNGS is designed to facilitate systematic and reliable analyses of NGS data, using a combination of imported annotation data from the leading available public sources with detailed and flexible filtering strategies based using virtual gene panels and Human Phenotype Ontology searches, among others.

omnomicsNGS gives us the power to be able to filter a sample to arrive at those key variants based on annotation data, computed predictions and expert knowledge. By being able to develop and save filtering strategies, and take advantage of a large set of integrated databases, omnomicsNGS serves as an ideal tool to explore the genomes of these samples.

Alessio Fasano, GEMMA project co-lead, MD at MassGeneral Children’s Hospital and director of the EBRIS Foundation in Italy said “We are happy to be working with Euformatics in this very important multi-centre and multi-omics study, and glad to take advantage of their knowledge and tools for genomic analysis. We are excited to see what can be learned from the project, and how the analysis carried out by Euformatics and the other partners of the project can provide a better understanding of autism spectrum disorders.”

Advanced understanding

The analysis carried out using omnomicsNGS will be fundamental in furthering our understanding of the effects of genomic variations on autism spectrum disorders. Combined with the other analyses carried out as part of the study, including those of the metabolome, microbiome and environment, the genomic analyses will hopefully provide a crucial part of the puzzle in understanding these disorders.

You can read more about the GEMMA project on its website, or check out the information from EBRIS, the European Biochemical Research Institute of Salerno which is spearheading the project.

Alternatively, check out the project plan which was published in the Brain Sciences journal here

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