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UID:e90514005539a27e545b637d614eb93b
DTSTAMP:20260509T225413Z
SUMMARY:Genetic variant classification in monogenic disorders: critical to 
 confirm accurate genetic diagnosis
DESCRIPTION:Genomic testing has proven utility in rare\, monogenic disease 
 diagnostics\, guiding clinical management and improving outcomes in patien
 ts and their families. The availability of high-throughput DNA sequencing\
 , along with decreasing csts\, has driven the rapid expansion of genetic t
 esting in both clinical practice and research.\nThis has generated opportu
 nities and challenges in data analysis\, due to the large number of DNA va
 riants observed.\nTertiary analysis includes variant annotation\, filtrati
 on\, curation and prioritization\, typically in the context of the patient
 ’s clinical presentation\; and standardized classification of prioritize
 d variants following established guidelines and recommendations have been 
 introduced that are continuously updated.\nThis talk will cover the varian
 t classification for rare monogenic disorders as it is currently used in t
 he UK Genome Medicine Service and will also include examples of how varian
 t classification can benefit from research.\nThe subsequent workshop will 
 offer 10 spaces to practice rare\, monogenic disease variant classificatio
 n based on several scenarios.
URL:https://www.imperial.ac.uk/events/208454/genetic-variant-classification
 -in-monogenic-disorders-critical-to-confirm-accurate-genetic-diagnosis/
DTSTART;TZID=Europe/London:20260130T093000
DTEND;TZID=Europe/London:20260130T123000
LOCATION:Lecture Theatre 3\, Wolfson Education Centre\, Hammersmith Campus\
 , Imperial College London\, London \, W12 0NN\, United Kingdom
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DTSTART:20260130T093000
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