Study human pathologies with Sistemas Genómicos complete CE-IVD workflow, powered by MGI

The Power of MGI's DNBSEQ™ Technology

At the core of this partnership is MGI's DNBSEQ™ technology, which powers the DNBSEQ-G400 benchtop sequencer. DNBSEQ-G400 delivers high-throughput sequencing at a lower cost while maintaining unparalleled accuracy. The technology is crucial in providing precise and reliable data, reducing the risk of misdiagnosis, and enabling clinicians to make more confident patient care decisions.

The DNBSEQ-G400 sequencer offers comprehensive genomic coverage, including all exonic regions of the genome, flanking regions, and mitochondrial DNA (mtDNA). This level of precision is particularly vital in diagnosing hereditary monogenic diseases across various medical fields, from neurology to cardiology. By offering low-cost, high-accuracy sequencing, the system makes genomic testing more accessible, allowing more patients to benefit from personalized treatments.

Comprehensive Genetic Solutions from Sistemas Genómicos

Sistemas Genómicos enhances the collaboration by offering a complete genetic solution that covers the entire exome and mtDNA. HubExome Plus Panel® - GeneSGKit® (CE-IVD) provides comprehensive variant detection, including single nucleotide variants (SNVs), insertions and deletions (INDELs), and copy number variations (CNVs). The solution also supports virtual panel design, allowing clinicians to target specific disease areas like cardiology, neurology, and immunology. These tailored panels make the system highly flexible and customizable, catering to the unique needs of different patient populations and medical conditions.

Streamlining the Genetic Testing Workflow

The collaboration between MGI and Sistemas Genómicos doesn't stop at sequencing technology. It extends into bioinformatics, offering a streamlined workflow integrating library preparation, sequencing, and data analysis. This complete workflow is designed to be user-friendly and efficient, reducing processing time from 8 hours to just 1.5 hours when using MGI's automated library preparation systems, such as the MGISP-100 and MGISP-960.

The GeneSystems® platform, which is part of the workflow, is a cloud-based solution for secondary and tertiary analysis. It provides a CE-IVD certified, secure environment for data interpretation, making it easier for clinicians and researchers to visualize, prioritize, and interpret genetic variants. With features like automatic variant classification according to ACMG guidelines, and extensive filtering options including virtual panels based on HPO terms, GeneSystems® ensures that the data generated by the sequencer is translated into actionable insights.

A CE-IVD Certified Workflow for In Vitro Diagnostics

The full genetic sequencing solution, from library preparation to data analysis, is CE-IVD certified and complies with the latest IVDR regulations. This ensures it meets the highest standards for diagnostic accuracy and reliability, guaranteeing both safety and effectiveness.

Empowering Precision Medicine

This partnership ultimately enables more precise diagnosis and personalized treatment plans. By combining MGI’s cutting-edge sequencing technology with Sistemas Genómicos' expertise in genetic analysis, the collaboration facilitates a deeper understanding of genetic disorders. For researchers, clinicians, and patients, this means more accurate diagnoses and the ability to tailor treatments to individual genetic profiles.

With the combination of MGI's DNBSEQ™ technology and Sistemas Genómicos' comprehensive genetic solutions, the future of genetic testing looks more promising than ever. The collaboration exemplifies the synergy between cutting-edge technology and deep scientific expertise, helping to drive innovations in precision medicine and clinical research.

To learn more about the workflow, please download our latest Application Note.