As genetic testing is being proven useful and used in ever more areas of medicine where it can instruct disease prevention, medical care, and disease monitoring, there is a concomitant longer term accumulation of experience taking place in the background. Both fundamental research and clinical work can benefit from the value of this growing knowledge when it is structured and exposed to users as well as algorithms so that they can make proper use of it. In the specific context of genetic variant interpretation, it has been evidenced that a combination of a knowledge base with analytical tools can quickly grow the expertise of medical organisation, whether in clinical research, practice, or diagnostics.

Changing the perspective of variant analysis to a cohort-based from a patient-based one opens possibilities to find associations between patient cases or conditions on one hand and gene/genomic variant observations on the other. GWAS (genome-wide association studies) is an old and still valid data analysis approach frequently used in research and based on SNP array technologies. NGS (next generation sequencing) has made cohort analysis more powerful in the sense that the coverage is complete over the target regions, which can also be more focused. Contrary to GWAS, NGS also brings the data to the diagnostic laboratories, which are thus empowered to look at the accumulating information in view of improving their detection and reporting capabilities.

Euformatics has developed a knowledge base structure for genomic variants, a classification of samples into cohorts, and a workbench for accessing this information from a cohort-based perspective in addition to the standard per-sample perspective used in diagnostics. The cohort analytics has been designed to greatly reduce the effort involved in finding variants characteristic for a cohort. The analytics workbench – see image below – provides access to the same ca 150 variant annotation filters available also in the clinical diagnostic mode of the omnomicsNGS variant interpretation module, allowing different kinds of exploratory modes simultaneously targeting multiple samples.

Overall, the Genomics Hub has been designed with modules to create an end-to-end solution that can start from the sequencer raw data output and end with a tailored clinical report. Automated comprehensive quality control is included to allow the monitoring of both the bioinformatic pipeline and the wet lab steps. The cohort analytics helps users to evaluate variants over groups of samples and identify intricate connections between variants and associated clinical syndromes. Be confident, and keep pace as the genomic world evolves with the Genomics Hub. Reach out to us to schedule a demo.

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