Science & Technology
Our innovative technology opens the door to future care and treatment of genetic disorders.
Our gMendel®Test is a novel diagnostic tool, based on Oxford Nanopore sequencing technology, a cost-effective method for human DNA enrichment and tagmentation in the lab, allowing species identification and strain differentiation.
By calculating fractions of reads from one given chromosome, it is possible to identify aberrations from a normal karyotype and hence identify genetic disorders.
The gMendel®Test encompasses over 384 molecular barcodes, enabling simultaneous analysis of multiple samples in less than 24 hours and reducing costs for labs by a staggering 90%.
Variants are analysed, classified and assessed through our Phivea™ Platform by using customized Deep Learning architectures at all levels of the learning process. Following a multi model fusion strategy, the Platform combines outcomes of individual models into a single, accurate medical interpretation.
End-to-end assay support for smart, accurate and affordable diagnosis and medical interpretation
Our Phivea™ Platform is a comprehensive decision support software for healthcare professionals, which allows for timely diagnosis of genetic disorders and real-time prediction of clinical interventions.
Phivea™ employs advanced Artificial Intelligence and customized Deep Learning architectures at all levels of the learning process, from feature extraction to assessment and follow-up care.
Thanks to deep clinical understanding, our platform accommodates improved accumulated predictive power that can resolve individual false classifications and uncertainties.
Following a multi model fusion strategy, Phivea™ combines outcomes of individual models into a singular, final medical interpretation, comprising of accurate and clinically relevant diagnostics, at rapid turnaround times.
How it works
Phivea™ uses the Oxford Nanopore sequencing device to classify genetic disorders and perform quality control on DNA reads.
The software uses state-of-the-art Machine Learning algorithms to create dataflow pipelines for classification or prediction, based on recent research in genome sequence analysis that fulfils rigorous quality criteria.
Different Deep Learning and customized multi-level decision architecture are employed for every step in the learning process, from feature extraction to pipeline architecture.
For improved predictive performance, efficiency and clarity of datasets, Phivea™ combines pre-trained multiple base and conceptual models that can be fine-tuned to detect genetic disorders. The multi model fusion strategy built on top of the individual models combines their outcome into a singular final medical interpretation.
Bringing care and hope closer
Our vision goes beyond technological advancement. We aim to empower families and their children through social care and equal opportunities, and contribute to building resilient healthcare and welfare systems.
With our gMendel®Care initiative, we aim to bring accurate diagnosis and fair, equal care opportunities closer to all families facing genetic disorders. Our vision is to fulfil as many newborn screening panel requirements in as many countries as possible and include the gMendel®Test in national healthcare protocols.
To this end, we are working with all possible stakeholders to promote systematic data collection and knowledge sharing of genetic disorders and contribute to the development of integrated healthcare services, regardless of social or financial inequalities of the patients.
With gMendel®Hope, we aspire to shape successful treatment protocols on allogeneic bone marrow transplants. By combining the gMendel® technology with direct methods in protein crystallography, we could identify compatible matches to Major Histocompatibility Complex proteins, more accurately and economically.
That way, families and children could cease the lifelong use of immunosuppressant drugs and benefit from intelligent treatment products.