Our Technology
One platform. A comprehensive genome.
Implementing advanced sequencing technology
Long-read sequencing technologies can produce long contiguous stretches of DNA sequence (known as a “read”). This enables detection of genomic variations commonly missed or incompletely profiled by conventional short read sequencing.
The Oxford Nanopore long-read sequencing technology has excellent detection of genomic variation including single nucleotide variants, insertions and deletions (Indels), repeat expansions, structural variants, and copy number variants.
Current reagents and software, which enable duplex read detection, deliver high quality sequences. This sequencing accuracy and the capacity to deliver a comprehensive genome have primed long-read sequencing for clinical application.
Innovating delivery at the point-of-care
Deploying solutions at the point-of-care enables rapid diagnosis when time matters most, fosters expertise in harnessing comprehensive genomic profiling, and provides testing responsive to clinical needs.
The form-factor of the Nanopore sequencing platform enables flexible deployment in existing clinical laboratories. Our analysis and interpretation solutions leverage secure cloud-based infrastructure, scaling to meet the needs of various diagnostic settings.
Alamya Health fosters connectivity between genetic disease centers across the globe through its establishment of point of care testing.
Improving data integration
Phased integration of data enables the application of genomic, transcriptomic, and epigenomic findings as functional readouts assisting variant interpretation (e.g., splicing, expression, or differential methylation) and as indicators of disease and therapeutic response.
Our team has expertise in harnessing epigenomic information for parent-of-origin phasing, allelic methylation alterations, and in the development of epigenomic signatures to classify disease states.
Aggregate, multifaceted data will enable the development of advanced machine learning models to facilitate therapeutic decision-making.
Capturing the phenome
Decades of clinical expertise and experience in structured patient phenotyping guide the interpretation of the multi-modal genomics data and its contextualization for the clinical use.