In October last year, we announced that we had been selected to participate in a ground-breaking EU funded research project exploring autism spectrum disorders, to provide NGS analysis for whole genome sequencing (WGS) and quality control (QC). Though such projects often tend to move slowly, we are making progress, and as the summer comes to an end, we can give you an update on where the project currently sits.

Where are we at?

Patient recruitment for the study is underway in Galway (Ireland) and Boston (MA, USA), meaning that trials and testing will soon be able to begin. Euformatics CSO Christophe Roos recently attended a round-table discussion in Brussels with other main EU Horizon2020 financed projects using microbiome analysis (one of the central focuses of GEMMA) to discuss minimum information regarding microbiome analysis requirements in order to facilitate successful data sharing.

The complexity of contextualised microbiome analysis means that as there are so many actors involved, it has proven somewhat challenging to coordinate and document measurement practices in a computer-readable manner, as well as data handling and storage. However, momentum is starting to pick up and we expect the patient tests to begin by the end of this year. With the minimum information requirements in place, there is more security and higher reliability in using the data collected across all of the projects under the Horizon2020 umbrella in the future.

If you are in interested in finding out more about the other microbiome focused projects taking place, you can head to their individual websites: Oncobiome and Microb-Predict

What has been going on at Euformatics?

Here at Euformatics we have been focusing our efforts on improving and developing the capabilities of our NGS interpretation and reporting software (omnomicsNGS) towards WGS, to ensure that it provides the most relevant and pertinent information to the medical professionals who will be using it with patients. We have added several new features, including a Workbench feature to help efficiently explore and classify variants, and released it for use with one of our customers, HUSLab here in Helsinki, who are part of the biggest healthcare providing organisation in Finland.

We have also been further developing our quality control software, omnomicsQ, to ensure that the quality of genomic data used in the project is at the highest it can be. As part of this, we launched our brand new plugin for Ion Torrent Suite, as well as a dedicated version for Illumina BaseSpace which can be accessed upon request. Read more about the Thermo Fisher plugin here.

What is yet to come?

As testing gets underway in the coming months, we are excited to see the potential for genome sequencing to unlock more doors to understanding autism, particularly in reference to gut bacteria and microbiome. While other partners in the project will be focusing on other molecular types and high throughput measurement technologies and tests to draw links, this will the first time that any potential genetic links will be drawn in reference to autism spectrum disorders. Our CSO Christophe Roos comments that “it will be really interesting to see how NGS can improve our understanding of autism spectrum disorders, and help medical professionals better understand how to treat and improve the situation of patients and families with ASD.”

Follow us for more updates as the project continues over the next few years. Please do get in touch if you have any questions about Euformatics’ role in the project, or any of our products at

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