Genomic testing has proven utility in rare, monogenic disease diagnostics, guiding clinical management and improving outcomes in patients and their families. The availability of high-throughput DNA sequencing, along with decreasing csts, has driven the rapid expansion of genetic testing in both clinical practice and research.
This has generated opportunities and challenges in data analysis, due to the large number of DNA variants observed.
Tertiary analysis includes variant annotation, filtration, curation and prioritization, typically in the context of the patient’s clinical presentation; and standardized classification of prioritized variants following established guidelines and recommendations have been introduced that are continuously updated.
This talk will cover the variant classification for rare monogenic disorders as it is currently used in the UK Genome Medicine Service and will also include examples of how variant classification can benefit from research.
The subsequent workshop will offer 10 spaces to practice rare, monogenic disease variant classification based on several scenarios.