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SeqOne Genomics

https://seqone.com/

Providing genomic analysis to everybody. SeqOne is a company focused on developing state-of-the-art genomic analysis tools for clinical applications in the fields of cancer and rare disease. The company's vision is to develop a genomic analysis system that dramatically reduces the cost and resources needed to provide accurate genomic analysis. Our aim is to make genetic testing easier and more accessible in order to accelerate the adoption of personalized medicine. SeqOne’s platform makes it possible to efficiently analyze "high resolution" next generation sequencing (NGS) data, providing a complete list of all genetic variants and prioritizing them in order of relevance. The platform uses a proprietary machine learning-based variant prioritization engine designed to identify variants that are medically relevant to each specific patient. SeqOne bioinformatics (genomic analysis algorithms) are organized by applications, which provide accurate answers to medical questions that influence patient treatment, in both constitutional and somatic pathologies. SeqOne offers applications to analyze a single-patient or an entire family to diagnose hereditary family disorders, detecting complex events such as large structural modifications or transposable elements. In the field of somatic cancer, applications can analyze tumor-only, compare healthy versus tumoral samples, or hematological cancers identifying relevant variants, such as somatic CNV, TMB, MSI, or fusion genes, as well as suggest therapeutic options. The SeqOne platform addresses the operational challenges of performing NGS analysis at scale, including secure data storage, management of process quality, and traceability needed for certification. We adopt a unique approach to process quality control that addresses ongoing process monitoring as well as changes to upstream lab procedures.