Growth in clinical genomics

Euformatics develops and delivers software for clinical genomics, helping hospitals and diagnostic laboratories transform raw sequencing data into accurate, accredited, and actionable results for patient care. Our solutions support laboratories around the world in:

• Annotating and interpreting genetic variants
• Running highly automated next-generation sequencing (NGS) bioinformatics workflows
• Ensuring reliable and accurate patient reporting through integrated quality control and NGS test validation

Between 2021 and 2024, the company experienced strong organic growth as genomic testing became increasingly integrated into mainstream healthcare. Clinical genomics transitioned from a specialized research activity to a core diagnostic tool — especially in oncology, rare diseases, and inherited disorders.

A rare combination: growth and profitability

The Deloitte Technology Fast 50 ranking is based purely on revenue growth, not profitability. This makes Euformatics’ performance particularly noteworthy — one of the few companies on the list to have achieved significant growth while operating profitably every year from 2021 to 2024.

“Achieving a place on the Deloitte Fast 50 list is a great recognition for our team and our customers,” said Tommi Kaasalainen, CEO of Euformatics.

“What makes me most proud is that we have managed to grow rapidly without sacrificing profitability or sustainability. In the current tech landscape, that’s rare — but for us, it reflects the trust that clinical laboratories place in our software and the long-term value we’re creating for healthcare. This recognition belongs equally to our dedicated team and to the customers who rely on us every day to make genomics work in real-world diagnostics.”

Growth driven by innovation and collaboration

Euformatics’ growth has been powered by a combination of product innovation, trusted customer relationships, and global collaboration in advancing clinical genomics standards.

Among our valued customers is Cerba Healthcare, one of Europe’s leading networks of medical laboratories. Cerba uses Euformatics software as part of its clinical diagnostics operations — supporting accurate, standardized variant interpretation in daily patient testing. Working with a group that processes millions of samples each year provides real-world validation of our products’ scalability, robustness, and regulatory readiness.

Our commitment to improving data quality in genomics also extends beyond our clinical customers. Euformatics has worked closely for the past decade with international quality assessment organizations such as EMQN (European Molecular Genetics Quality Network) and GenQA to assess the performance of clinical NGS laboratories globally. Through these partnerships, we contribute software tools, domain expertise, and automation solutions that support external quality assessment (EQA) schemes — helping laboratories worldwide measure and improve their performance in bioinformatics workflows.

Looking ahead

Being included in the Deloitte Technology Fast 50 list is both a milestone and a motivation. As precision medicine continues to expand globally, Euformatics remains focused on helping laboratories and healthcare systems scale genomics safely, efficiently, and affordably.

“Our mission has always been to make genomic data interpretation accurate, standardized, and accessible,” added Kaasalainen. “We’ll continue to invest in products and partnerships that make that vision a reality — sustainably.”

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Saide Genomics is a high-ambition laboratory for clinical diagnostics and research that aims to become a center of personalized medicine and research, where innovative solutions for science and life are implemented. Their testing services cover both germline and somatic testing and NGS sequencing equipment range from Illumina MiSeq to highest throughput NovaSeq X Plus. This setup allows both flexibility and cost-efficiency regardless of the sample volume or sequencing depth.

After an in-depth evaluation of content and performance, Nexome, an NGS solution from Nonacus for whole exome sequencing (WES) was selected for its quality of capture delivering the highest on-target rates of the kits tested The Euformatics team analyzed the output of multiple kits from different vendors sequenced by Saide and reported the results to Saide’s team to make an informed decision based on various quality metrics from the raw data and aligned data. This revealed important insight into the coverage of difficult-to-sequence regions in the genome.

Euformatics clinical bioinformatics suite, the Genomics Hub, was selected after a proper testing period during which the Saide’s geneticists and bioinformaticians had full access to the platform and were able to build and test their workflow for analyzing samples from raw data to clinical reports. The application scientist team from Euformatics worked closely with Saide’s team to optimize filtering strategies and automating the bioinformatics workflow for the selected clinical use cases.

Arunas Leipus, the CEO of Saide Genomics, comments: ”Both Euformatics and Nonacus were very supportive and patient on our path to expand our testing offering from NIPT to whole exome sequencing. We now have a very efficient and high-performing workflow from the wet lab side to all the way to clinical reporting for analysing patient samples. We are looking forward to a multi-year partnership with both Euformatics and Nonacus to build the highest quality NGS lab in the Baltics.”

Chris Sale, Co-Founder and Chief Strategy Officer at Nonacus continues: ”We were very impressed with the aspirations of Saide Genomics and the attention to detail shown by Saide’s team in their evaluation of different kit providers. We are of course delighted that, based on performance and enhanced clinical content, our Nexome panel was selected to deliver their Whole Exome Sequencing service. Our experience of working together with Euformatics to deliver a complete solution from sample to report was extremely positive.

Tommi Kaasalainen, CEO of Euformatics, concludes: “Saide Genomics has the infrastructure and team in place to build a powerhouse of clinical NGS sequencing in the Baltics. I met their team in the Precision Medicine Forum in Riga in 2023 and it was quickly clear that our tools could contribute to what they were planning to do. Our team worked closely with them to select the most suitable kit provider, Nonacus, with whom we already had previous experience and are configuring our tools currently to highlight the key features of their oncology kits.”

The commercial partnership between Saide Genomics, Euformatics and Nonacus begun in early 2025. The companies are moving forward with validation of the test after which the clinical operation will start to scale.

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 and 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 a quality control tool; for NGS data quality management.

To learn more, visit www.euformatics.com

About Saide Genomics:

Saide Genomics is a center for molecular diagnostics, genomics and research. Since 2023, the company has been providing personalized medical solutions and services for patients from Lithuania and foreign clinics. Our mission is to ensure the highest global standards in diagnostic testing and genomic services.

To learn more, visit www.saidegenomics.com

About Nonacus:

Nonacus is a leading genomics company based in Birmingham, UK, dedicated to developing innovative diagnostic solutions that have the potential to enhance patient care. Through cutting-edge technology and a commitment to excellence, Nonacus provides high-quality genomic products and services to healthcare providers and researchers worldwide.

To learn more, visit www.nonacus.com/

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com

The post PRESS RELEASE | Saide Genomics partners with Euformatics and Nonacus to set up a high-throughput clinical lab in Baltics appeared first on Euformatics.

The scope of the collaboration covers the infusion of Euformatics tertiary analysis of NGS data with Bencos Healthcare secondary analysis and downstream bioinformatics. Euformatics provides the OmnomicsNGS software and support for Bencos team that analyses clinical samples received from their Indian healthcare sector customers through their bioinformatics expertise. The benefits of the collaboration are demonstrated live at the 6th International GATC conference organized in Pune, India from 4th to 6th of April, 2025 through a clinical NGS workshop covering best practices, use of AI and other topics relevant to clinical interpretation of genetic variants.

Bencos is the first company to have developed clinical panels and WES capture kits in the region. Bencos further supports its clients with targeted preanalytical support to cover the entire genomics life cycle of the clinical samples. Bencos will use Genomics Hub for analyzing both rare diseases and cancer from its gene panels and whole exome sequencing (WES) data. Advanced AI functionality will be leveraged throughout the workflow from optimizing the data base to filter and prioritize clinically relevant variants with high confidence.

Subhanjan Bhowmik, the Founder & CEO of Bencos comments: ”We see a large opportunity in India for clinical NGS. Our team evaluated several alternatives for collaborating with clinically proven and best in practice NGS data tertiary analysis software and concluded that Euformatics provides the most comprehensive and competitive software that integrates best with our BI strengths. We see a huge opportunity for collaboration in building robust solutions for the Indian market together. It’s great to get their scientific leaders to jointly participate in GATC 2025 to show the joint strength of our companies in highlighting the usability, accuracy and value of the software to our customers.”

Tommi Kaasalainen, CEO of Euformatics continues: ”India is an extremely competitive market with lots of talent in IT and bioinformatics. Finding a collaborator in NGS based BI, having 14+ years of global market experience; we find Bencos is a great way for us to explore the Indian market needs, through a highly competent team of BI analysts to interpret patient data output. The GATC conference gives us a nice kick-start to the collaboration as our scientific teams get to collaborate face-to-face in Pune.”

Partnership with Bencos Research Solution is the first one for Euformatics in the Indian subcontinent. The company is committed to continuing geographical expansion through strategic and channel partnerships on all continents.

About Euformatics:

Euformatics is a Finnish software company that specialises 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 and 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 a quality control tool; for NGS data quality management.

To learn more, visit www.euformatics.com

About Bencos Research Solutions:

BENCOS RESEARCH SOLUTIONS PVT LTD is a leading genomics company based in Mumbai, Maharashtra, India, specializing in high-throughput genomics catering to the global market for the past 14+ years. It provides ultra-customized research services to research institutes, clinical institutions, hospitals, and biopharmaceutical companies, supporting them in project ideation and experimental planning to address critical biological questions and drive actionable research outcomes.

To learn more, visit www.bencoslife.com/ 

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com

The post PRESS RELEASE | Euformatics partners with Bencos Healthcare to jointly develop solutions to cater to the Indian Market appeared first on Euformatics.

The collaboration covers the full suite of Euformatics bioinformatics tools for NGS data analysis. The secondary analysis module takes care of the computational heavy lifting of read alignment and variant calling from the raw sequence data. The variants are then automatically transferred to the tertiary analysis module, which automates the process of annotation, classification, interpretation and reporting of clinically relevant variants. This clinical workflow is controlled by a comprehensive quality control module that calculates up to 60 quality metrics from the FASTQ, BAM and VCF files that the bioinformatics process produces. QC service includes a module for NGS test validation that the laboratory can use when introducing new tests to their portfolio and needing to validate the analytical performance of the pipeline.

José Belchior Nunes, President and CEO of Bioportugal, says, “Today marks our 34^th anniversary. We have built a strong presence in the Portuguese healthcare market during the past decades and this announcement is a great way to celebrate this achievement. Euformatics tools for NGS data analysis nicely complement and complete our offering in molecular genetics and pathology. Clinical laboratories can now get the full end-to-end solution from consumables to bioinformatics from us, supported by a local team of field application specialists.”

Euformatics’ CEO, Tommi Kaasalainen continues, “We are very happy to sign Bioportugal as our local partner in Portugal. We have operated directly in the market with few customers for several years and now we get a nice boost to our presence through this partnership. There are nice synergies also here with Nonacus kits being represented by Bioportugal and us having worked with and validated Nonacus data on our platform in other markets already. Thus, Portuguese customers can feel confident that the end-to-end solution also works from beginning to end.“

This contract marks the 21^st channel partnership agreement Euformatics has signed during the past few years, covering the Americas, Europe, the Middle East and Asia. Finding the best local partners continues to be one of the strategic priorities for the company.

About Bioportugal:

BIOPORTUGAL S.A. is a leading supplier of technological solutions to the hospital market, research centers, and laboratories, with a focus on Life Sciences and Laboratory Diagnosis. Founded in 1990, the company has established a strong presence in Portugal, with offices in Porto and Lisbon. With a global network of commercial partners from Europe, Asia, and North America, BIOPORTUGAL offers a wide range of products and services in areas such as pharmaceuticals, Life Sciences, Laboratory Diagnosis, and has a subsidiary in Spain, ELIGEN S.L., which operates in Life Sciences, Laboratory Diagnosis.

To learn more, visit https://www.bioportugal.pt/

About Euformatics:

Euformatics is a Finnish software company that specialises 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 and 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 a quality control tool; for NGS data quality management.

To learn more, visit www.euformatics.com

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com

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Instand-NGS4P is a Horizon 2020 funded project that shares our consortium’s vision for improving cancer patients’ diagnostics. This is achieved by developing and providing integrated and standardized workflows for Next Generation Sequencing (NGS) and integrating information from cancer gene testing, pharmacogenetics testing and e-medication, to support medical decision making. The program will run, with three phases, until May 2025 with a total pre-commercial procurement budget of approximately EUR 8 million (around USD 8.2 million).

Euformatics, BC Platforms, Oncompass Medicine and Genomate Health have been working on designing and developing the solution. After thorough review of prototypes from various providers for Phase 2, and the applications for Phase 3 to deploy onsite, the partnership has been awarded a Phase 3 contract. The combination of existing IP and expertise in areas such as genomic data management, variant interpretation, NGS data quality control, and precision oncology, was fundamental to the partnership being awarded the contract.

Kurt Zatloukal, Professor of Pathology at the Medical University Graz, said, “This important project to deliver innovative NGS workflows, driven by patient and clinical needs, has come a long way since its start in 2022. The consortium of BC Platforms, Euformatics and Oncompass Medicine was selected from highly competitive applications, which were assessed in a multi-step peer-reviewed process. We’re looking forward to continuing this stimulating collaboration in phase three.”

Tommi Kaasalainen, CEO of Euformatics, said, “The ambition level and European collaboration of Instand-NGS4P are both inspiring and challenging. As we prepare to showcase the modular approach for deploying bioinformatics workflows between multiple vendors collaboration is needed between competitors as well as customer sites. Solid performance in the final phase gives both the customers and vendors a good starting point for procurement of solutions for clinical use.” 

Mikaela Bruhammar, interim CEO of BC Platforms, said, “I am delighted that the work of this consortium has been recognized with a contract for phase three in this Horizon 2020 funded program. The Instand-NGS4P project exemplifies the importance of multinational collaboration and combined expertise in improving outcomes for patients..”

Attila Mézes, CEO of Oncompass Medicine, said “We are thrilled to have advanced to the third phase of the groundbreaking ‘Instand-NGS4P’ project alongside our esteemed partners BC Platforms and Euformatics. Our pivotal role in providing precision oncology expertise from both molecular and clinical perspectives, coupled with our molecular tumor board feedback on the prototype, aligns with our commitment to revolutionize cancer diagnostics. This milestone not only highlights our collective progress but also signifies our dedication to delivering tailored therapies based on a comprehensive understanding of each patient’s tumor profile.”

Professor Dr. Istvan Petak, Founder and CEO of Genomate Health, said, “We are thrilled to be part of this initiative, where our expertise in AI-powered precision oncology directly contributes to enhancing patient outcomes across Europe. As we advance into the final phase of the Instand-NGS4P project, it’s rewarding to see the remarkable strides we’ve made. Our collaborative efforts ensure that personalized treatment plans are more accurate and tailored than ever before. By integrating Genomate® with our partners’ expertise, we set a new standard in precision oncology and cancer care.”

The final phase of the project starts now, with completion expected in Q2 2025. The hospital purchasing consortium will test and evaluate the solutions of all phase 3 contractors with the intention of progressing to Public Procurement of Innovative solutions (PPI) after the project.

* The consortium is formed by hospitals from the Medical University of Graz in Austria, University of Florence and University of Milano-Bicocca in Italy, Erasmus University Medical Center in the Netherlands, Christian-Albrecht University of Kiel and St. Anna Children’s Cancer Research Institute in Germany, and the Centre Léon Bérard in France.

** Announcement on 18_^th of May, 2022: https://www.euformatics.com/news/euformatics-partners-with-bc-platforms-and-oncompass-medicine-to-develop-oncology-ngs-workflows-for-buyer-consortium-of-seven-major-european-hospitals
Announcement 1^st of December, 2022: https://www.euformatics.com/news/press-release-euformatics-continues-the-partnership-with-bc-platforms-and-oncompass-medicine-to-deliver-standardised-oncology-ngs-workflows-for-seven-major-european-hospitals

*** The project is co-funded by the European Union Grant Agreement number 874719.

About Instand-NGS4P:

Instand-NGS4P is a 65-month PCP project federating 7 leading medical centers (two are coordinating ERNs) as buyers’ groups with major experience in using different NGS platforms in research and routine diagnostics. The consortium is further strengthened by European patient advocacy groups, a standardization organization and partners participating in the European infrastructures BBMRI-ERIC, ELIXIR as well as several NGS-related EU programs to cover all technical aspects and transversal needs & requirements.

For more information, please visit the website www.instandngs4p.eu

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, molecular genetics and pathology laboratories, and EQA providers to deliver most accurate results for the benefit of patients. Our present core solution is the Genomics Hub, which includes modules for variant calling, annotation, classification, and reporting, NGS data quality management, and NGS-based test validation and verification.

For more information, please visit the website www.euformatics.com 

About BC Platforms:

BC Platforms is a global leader in providing a powerful data and technology platform for personalized medicine and drug development, accelerating the translation of insights into clinical practice. Our technology drives the infinite loop between personalized care and research discoveries, leveraging latest science, deep technical expertise, strategic partnerships, and harmonized, diverse data collections. Our high performing genomic data discovery and analytics platform enables flexible data integration, secure analysis and interpretation of molecular and clinical information.

For more information, please visit the website www.bcplatforms.com 

About Oncompass Medicine:

Oncompass is the winner of the Future Unicorn Award 2021 of DIGITALEUROPE, the association of technology companies in forty countries in Europe. The company is the global champion of GETINTHERING startup competition 2021 out of competing companies of 109 countries. Oncompass was the first to develop a software as a medical device based on artificial intelligence that proved to improve therapeutic decisions in precision oncology. Oncompass also provides end-to-end services for oncology centers that wish to provide precision oncology to their patients. 

For more information, please visit the website www.oncompassmedicine.com

Press relations:

Instand-NGS4P: Kurt Zatloukal, kurt.zatloukal@medunigraz.at 

Euformatics: Tommi Kaasalainen, tommi.kaasalainen@euformatics.com

BC Platforms: Mikaela Bruhammar, mikaela.bruhammar@bcplatforms.com

Oncompass Medicine: Attila Mezes, attila.mezes@oncompassmedicine.com

The post Partnership of Euformatics, BC Platforms, Oncompass Medicine, and Genomate Health Selected to Develop Oncology NGS Reporting Solution for Seven Major European Hospitals appeared first on Euformatics.

Dr. Ferronika’s group specialises in next-generation sequencing (NGS) to study inter and intra-patient tumoral genetic heterogeneity. She performs in-depth analyses of somatic mutations, using Euformatics’ Genomics Hub. Dr Ferronika’s research team receives essential support from Euformatics’ development team, enabling them to obtain reliable results confidently.

Dr. Paranita Ferronika, Group Leader at the Department of Anatomical Pathology, says: “As a cancer genetics researcher, I can confidently say that Euformatics’ Genomics Hub is an essential tool in our work. The software’s advanced features have significantly improved our ability to identify somatic mutations and comprehend their role in disease progression. Furthermore, the platform’s easy-to-navigate interface and robust reporting options make communicating our findings with fellow researchers and collaborators effortless.”

Euformatics’ CEO, Tommi Kaasalainen comments: “We are thrilled to have signed this new commercial relationship with UGM. Seeing our tools used in the field to advance research and improve patient outcomes is always rewarding. Our team is dedicated to providing the best possible support to Paranita’s research team, and we are confident that the Genomics Hub suite will help them achieve their goals. We are grateful to have the opportunity to collaborate with such a talented group of researchers and look forward to seeing the impact of their work.”

About Euformatics:

Euformatics is a Finnish company that provides software for genomic data interpretation. Since 2010, Euformatics has been helping medical doctors and molecular genetics laboratories provide better precision medicine services based on human genomes. Our core solution is the Genomics Hub, which includes a CE-IVD labelled variant analysis, copy number variation (CNV) and reporting tool, quality control for accredited NGS-based labs, and an NGS assay pipeline validation tool.

For more information, please visit our website www.euformatics.com 

About Universitas Gadjah Mada

The university is committed to enhancing the health status of individuals, families, and communities through top-notch education, research, and services. It aims to maximize the use of data and knowledge through information technology and strives to integrate itself seamlessly into the Academic Health System.

For more information, please visit: https://acadstaff.ugm.ac.id/  

The post PRESS RELEASE | Universitas Gadjah Mada chooses Euformatic’s Genomics Hub to gain insight into somatic analysis appeared first on Euformatics.

Ouilab Group is a first national independent provider of diagnostic laboratory services in France composed of 5 companies, 17 technical platform and 160 sampling sites. Each member laboratory in the group makes their decisions independently to best serve needs of their customers and patients. Recent introductions of new innovation in high quality NGS sequencing provided an opportunity to optimize the workflow from wet lab to clinical report by combining Element Bioscience’s AVITI sequencer and Euformatics Genomics Hub.

Vincent Lehmann, Managing Director at Ouilab, comments: “We explored the output of Element Bio AVITI together with the Euformatics team and concluded that the instrument and software combination is most suitable for our needs. We emphasize the importance of maintaining intellectual control of the entire analytical process in order to develop our skills and expertise. We have multiple options to adapt Euformatics’ tools to our specific needs and the support that we are getting for developing and validating workflows is important when moving to clinical production.”

Charlotte Felici, Medical Biologist at Ouilab Laxou laboratory, continues: “From a biologist perspective Euformatics provides tools for deep exploration into the genomic profile of the patient. The tools also allow paying particular attention to controlling the life cycle of the wet lab, sequencing, and bioinformatics processes through rigorous validation and regular QC. Christophe’s team at Euformatics provides very good support in setting up our pipelines, parameters, and quality thresholds for the clinical workflow; and all of it in French.”

Euformatics’ Chief Scientific Officer, Christophe Roos concludes: “I have enjoyed working with Ouilab on a practical level. They have a high level of expertise and ambition, both of which are needed for test development in the demanding domain of clinical molecular genetics. Setting up and validating a new instrument platform as well as trimming the variant analytics strategies needs to be done carefully, considering the whole workflow from wet lab to clinical report. This is an area where we have worked closely together with the Strasbourg and Laxou labs.”

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 omnomicsNGS; for clinical analysis and reporting of patient NGS data, and omnomicsQ; for NGS data quality management.

For more information, visit www.euformatics.com

About Ouilab Group:

Founded in 2019 out of the desire to create an independent and strong regional entity, the OuiLab Group was born from the merger of 3 historic players in the Grand Est, the EspaceBio, Bio67 and BioAllan laboratories. In 2021, the Dynalab laboratories will join the group and in 2022 the Central 92 laboratories and Biosmose. It was in the midst of the Covid-19 health crisis that biologists united, resolutely motivated to take on the new challenges of their professions together. Driven by common values, they have chosen to combine their skills and pool their know-how. True specialists in medical biology, Ouilab invests in a wide range of specialties.

For more information visit www.ouilab.com

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com 

The post Press Release | Euformatics partners with Ouilab Group in France to power their clinical NGS data analysis appeared first on Euformatics.

With the avenue of high throughput measurement technologies such as next generation sequencing the hypothesis-driven investigative research approach has been complemented with data driven approaches. Let the data talk! If you find something exceptional in one haystack that is absent from the other,  it will certainly be worth further attention, whether it is the needle you went out searching for or not. In scientific terms, though, let’s rather talk about cohorts than haystacks.

Cohort analysis involves studying groups of objects, such as individuals, who share, or differ over some defined characteristics with the purpose to find some underlying cause – the needle. High throughput sequencing provides one analogy of the haystack. This is a typical premise-based scientific research approach. Also in the realm of clinical genetics, cohort analysis can be very illuminating. By scrutinizing the occurrence of genomic variants and other epigenetic features in cohorts, one can investigate how they influence the risk, onset and progression of diseases, the effectiveness of treatments, or the emergence of potential side effects.

This case study delves into the role of cohort analysis in clinical genetics research, highlighting its methodologies, challenges, and breakthroughs. By examining the whole exome and whole genome sequencing -powered studies, the readers will gain an appreciation of how cohort-based approaches can shed light on the intricate relationship between our genes and our health.

Folkhälsan Research Challenge

Folkhälsan is an organisation in Finland that works for better health and quality of life. Our operations in Finland and on the Åland Islands include daycare centres, support for young people, education, services for the elderly and people with disabilities, as well as a world-class research centre. Folkhälsan research centre works in close collaboration with Helsinki University Hospital. Researchers typically also work in clinical practice and teach in the Medical School. 

There are two research groups at Folkhälsan that leverage genomic information in their studies. A group led by Marco Savarese is looking for novel variants, genes, and mechanisms causing human skeletal muscle diseases. 

Second group, led by ophthalmologist Joni Turunen, is researching genetic eye diseases. In collaboration with Helsinki University Hospital the focus of the group is a detailed clinical phenotypic characterization of genetic eye diseases, gene discovery, functional testing of variants in laboratory assays, and ultimately development treatments. The group utilises up-to-date genetics methods including exome, whole-genome, and long-read sequencing.

Clinical Research using a Diagnostics Tool

Both groups are analysing genetic variants using omnomicsNGS, a CE-IVD marked tool for tertiary analysis (variant annotation, curation, filtering and interpretation) of genomic data from patient samples. While the software tool was initially developed for clinical diagnostics and is used for that purpose by multiple university hospitals and private clinical laboratories on 4 continents a need emerged to look at data from multiple samples simultaneously instead of just one at a time.

The cohort analysis functionality was developed into omnomicsNGS on top of the systems variant knowledge base documenting all sample variants. The team at Folkhälsan helped in elaborating some key features of the module. The cohort analysis functionality applies filtering and prioritization of variants in a way akin to what is done in single sample diagnostics. As a result it becomes possible to organize variants based on their features prior to asking qualitative or quantitative questions concerning correlation, association and causation.

After using the system for several months for clinical research, researchers at Folkhälsan can share their experiences. Marco’s team comments that “we finally have the tool we were looking for. We can browse our cohort and retrieve variants in a specific gene of interest in a few seconds. This allows us to periodically re-check our results in search for ´new´ findings in old data”. 

Joni continues by saying that “In genetic research with current sequencing technology, you gather an enormous amount of data relatively easily. We acquired the omnomicsNGS to speed up the guest for often single causative gene variants from hundreds of thousands of genetic variants. We have utilized the platform in the situations of familial diseases, whole genomic data and in the cohort analysis”

Based on the feedback from Folkhälsan, Euformatics continues to refine the clinical research capabilities in the Genomics Hub tools. 

The post Case Study: Cohort Analysis in Clinical Genomics Research appeared first on Euformatics.

Euformatics offers a range of bioinformatics tools for analysing NGS data. Their partnership includes the complete Genomics Hub, which encompasses the comprehensive quality control module and the secondary and tertiary analysis modules. The quality control tool calculates more than 60 quality metrics from the standard bioinformatics files produced by NGS workflows. The secondary analysis performs read alignment and calling of different variant types from the sample (small variants, structural variants). The resulting data can then be analysed by the tertiary analysis tool that performs variant annotation, classification,  interpretation and reporting. These tools can help researchers, clinicians, pathologists, and geneticists to analyse NGS samples – with confidence – from small gene panels to whole genomes.

G. Varadharaj, Technical Director of Genetrics, says: “I am delighted to talk about our partnership with Euformatics. Our collaboration has been tremendously advantageous for both of our organisations. By pooling our knowledge and expertise, we will drive innovation and growth in our industry. It has been a pleasure to work with the Euformatics team so far, and we look forward to continuing our partnership for many years to come.”

Euformatics’ CEO, Tommi Kaasalainen, continues, “I am thrilled to announce our partnership with Genetrics as our new channel partner for distributing our NGS data analysis software in the Middle East. It’s important to provide better accessibility to high-quality genetic testing in the healthcare industry, resulting in improved patient diagnosis and better quality of healthcare services in the region. I am grateful for the opportunity to work with the Genetrics team and look forward to a long and successful partnership. ”

Euformatics’ partnership with Genetrics will deepen their understanding of the local market and navigate them through unique and challenging market trends. Euformatics aims to strengthen its presence in the Middle East market. 

About Genetrics:

At Genetrics, our team of professionals has been collaborating with pioneers in the medical and scientific industries for decades, helping them market their products in the Middle East and Asian markets. Our continuous growth is a direct response to our customers’ needs, and today, we offer complete turnkey solutions for all their healthcare scientific requirements. Our range of technologies and systems includes medical and laboratory equipment, biological sample collection, processing and storage management, analytical systems, reagents and research chemicals, high-performance computing, bioinformatics, lab information management systems, network and database management, seamless integration of NGS platforms, Human Identity management for DNA database projects, and tools for validation and compliance management. We are dedicated to serving our clients in the Middle East and providing them with the best possible solutions for their needs.

To learn more, visit https://www.genetricsinc.com/  

About Euformatics:

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

To learn more, visit www.euformatics.com

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com

The post PRESS RELEASE | Euformatics paves its way further to the Middle East market with Genetrics  appeared first on Euformatics.

OncNGS aims to improve cancer patients’ lives through development of novel molecular DNA/RNA analysis and profiling of tumor-derived material in liquid biopsies using a pan-cancer tumor marker analysis kit combined with a bioinformatics decision support system including the analytical test interpretation and clinical oncology reporting. Phase 2 contracts start now in September 2023 after completion of Phase 1 during first half of 2023 and evaluation of tender responses during the summer. The overall pre-commercial procurement will span across three competing phases and will run until 2026 with a total contract value of 7 million euros.

Tommi Kaasalainen, CEO of Euformatics, said, “We had great collaboration with ViennaLab and Oncompass during Phase 1 so I was confident that we had good chances of progressing to the next phase of the project. The technical requirements in the oncNGS program are super tough but fortunately we have a world class team in our companies to tackle them. Looking forward to delivering a high-performing liquid biopsy kit and bioinformatics pipeline to the buyers.”

Martin Zeppetzauer, CEO of ViennaLab, continues, ”During phase 1 the project team was able to progress rapidly and lay the foundations for a sophisticated and multifarious concept that will enable a new level of liquid biopsy diagnostics. The award of the phase 2 contract now enables us to intensify the efforts of our industry leading experts and we can look forward to the created concepts advancing to effective solutions.”

Professor Dr. Istvan Petak, Founder and CEO of Oncompass Medicine, concludes, “As we embark on Phase 2 of this pivotal project, our collective mission remains crystal clear: to unlock precision medicine’s full potential in the fight against cancer. With ViennaLab’s unrivaled proficiency in wet lab techniques and Euformatics’s excellence in dry lab analytics, our triad of expertise is poised to decipher the intricate molecular landscape, guiding us to bespoke cancer therapies. Together, we’re proud to lead the way in precision oncology, including rapid liquid biopsy analysis, offering hope to countless patients in need.”

The Phase 2 of the pre-commercial procurement starts now and will be completed within 12 months. The procurement consortium will then evaluate the output of phase 2 and will invite the successful suppliers to submit an offer for Phase 3. Awarded R&D providers in Phase 3 will integrate their solution to the buyers’ environment and demonstrate clinical performance and analytical validity such as assay performance to examine accuracy, precision and specificity of the workflow results.

* oncNGS procurement consortium is formed by oncology medical centers from the Sciensano and Institut Jules Bordet in Belgium, Institut Curie and Hospices Covils de Lyon in France, Charite Universtaetsmedizin and Ludwig Maximilians Universtaet Muenchen in Germany, Alleanza Contro il Cancro in Italy, and Institut Catala d’Oncologia in Spain.
** This pre-commercial procurement is co-funded by the European Union Grant Agreement number 874467.

About OncNGS:

OncNGS is a five year pre-commercial procurement project federating 8 leading medical centers as buyers’ groups with major experience in using different NGS platforms in cancer diagnostics. The consortium is further strengthened by a standardization organization in cancer control, European leading biomedical research in the field of haematologic malignancies and several other partners to cover all commercial aspects, intellectual property rights, innovation adoption and technical requirements.
For more information, please visit www.oncngs.eu

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 omnomicsNGS; for clinical analysis and reporting of patient NGS data, and omnomicsQ; for NGS data quality management.
For more information, please visit www.euformatics.com

About Viennalab:

ViennaLab Diagnostics specializes in easy-to-use in vitro diagnostic assays for the detection of genetic variants associated with genetic disorders, genetic predispositions, pharmacogenetics, cancer, and the human microbiome. All ViennaLab products are designed and manufactured in accordance with the quality standard of ISO 13485. Where indicated the ViennaLab assays carry CE IVD status or are IVDR certified products.
For more information, please visit www.viennalab.com

About Oncompass Medicine:

Oncompass is the winner of the Future Unicorn Award 2021 of DIGITALEUROPE, the association of technology companies in forty countries in Europe. The company is the global champion of GETINTHERING startup competition 2021 out of competing companies of 109 countries. Oncompass was the first to develop a software as a medical device based on artificial intelligence that proved to improve therapeutic decisions in precision oncology. Oncompass also provides end-to-end services for oncology centers that wish to provide precision oncology to their patients.
For more information, please visit www.oncompassmedicine.com

Press Relations:
Tommi Kaasalainen
Euformatics
tommi.kaasalainen@euformatics.com 

The post PRESS RELEASE | Euformatics, Viennalab Diagnostics and Oncompass Medicine, awarded a contract to develop an end-to-end liquid biopsy solution for eight leading European oncology centers appeared first on Euformatics.