Espoo, Finland, January 2023. Folkhälsan Research Center, has chosen Euformatics as the provider of NGS secondary analysis and variant interpretation software tools as it begins its NGS research program to analyze rare genetic variants in hundreds of exomes from patient samples.

Savarese’s research team at Folkhälsan, a leading institute in rare genetic diseases scientific research, has recognized neuromuscular diseases as a useful study model to identify the molecular mechanisms underlying the discordance between the known genotype and the predicted phenotype. The group aims to dissect the molecular mechanisms underlying the heterogenous phenotypes observed in patients with neuromuscular diseases using the Euformatics Genomic Hub tools. The tools allow the Institute to identify patterns and insights in the data reporting to functional analyses clarifying their molecular pathology paving the way for the development of disease therapies. 

Euformatics products have been successfully taken into use at Folkhälsan, in the first instance for re-analysis of existing germline patient data, and later expansion is planned for analyzing new WES and WGS samples as the testing capacity of the research institute increases.

According to Marco Saverese PhD, the group leader and postdoctoral scientist at Folkhälsan Research Center, “After the evaluation of several Bioinformatic solutions, we concluded that the flexibility in creating filtering strategies in Euformatics variant interpretation tool, complemented with the secondary analysis and cohort analytics functionality, were the best suited for our current technical needs in muscular dystrophy research projects. We are optimistic to continue scaling our operations from exomes to genomes with confidence in the capabilities of the Euformatics Genomics Hub performance. We get the best of both worlds, an effective solution meeting our demands in the NGS industry and a close-by team to provide support to our needs as we integrate new features into our pipelines.”

The CEO of Euformatics, Tommi Kaasalainen, concluded: “While our tools are primarily designed for clinical diagnostics, Folkhälsan is a prime example of a clinical research customer. Their needs are more versatile as they need to study cohorts of patients in addition to looking at individual genomes or exomes. I am glad that the flexibility of our genomic data analysis tools allows these use cases as well.” 

The company has previously made it clear that 2023 is the year it plans to be at the forefront of scientific research expanding its global customer base in academia and key national-level players. The new partnership with Folkhälsan brings a local champion in Finland paving the way for further advance in scientific NGS studies.

About Folkhälsan Research Center:

The Folkhälsan Research Center, responsible for Folkhälsan’s research activities, is an internationally renowned unit with focus on biomedical and health research within programs on genetics and public health.The Center operates in Biomedicum Helsinki in the medical campus of the University of Helsinki and in Folkhälsan’s main building near the medical campus. The Center accommodates a staff of approximately 200. 

For more information, please visit our website 

About Euformatics:

Euformatics is a Finnish software company that specializes in high-standard bioinformatics tools for genomic data interpretation. Since 2010, Euformatics has been helping medical doctors and molecular genetics laboratories provide better precision medicine for cancer, common or rare disease diagnostics. At present, our core solution is the Genomics Hub which includes a variant interpretation tool; for clinical analysis and reporting of patient NGS data, and quality control tool; for NGS data quality management.

For more information, please visit our website 

Press Relations:

Tommi Kaasalainen

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