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Wed, Nov 11


Online Event

Shaning light on rare genetic disorders

Join Illumina virtual event to find out how advances in whole genome sequencing have brought newfound insights into rare disease analysis.

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Shaning light on rare genetic disorders
Shaning light on rare genetic disorders

Time & Location

Nov 11, 2020, 3:00 PM – 6:30 PM GMT+1

Online Event

About the Event

More than 300 million people world-wide1 and an estimated 6% of the population2,3,4 are affected by rare disease. Currently there are >6000 known rare diseases4, 80% have a known genetic etiology5, 50% affecting children under the age of five1 and 4.5% of children present annually with a genetic condition6. WGS offers the opportunity to shorten the diagnostic odyssey and is broadly accepted to become standard of care for rare diseases. It also has the ability to detect many variant classes simultaneously allowing for a much more thorough investigation of the genomic context of disease.


Welcome & Introduction

15:00-15:10 CET

Measuring clinical utility of genomics sequencing for rare genetic disorders

15:10-15:45 CET

WGS workflow for Rare Disease: Rapid DNA to filtered, prioritized variant report

15:45-16:20 CET

Live Q&A with the Illumina Experts

16:20-16:35 CET

Coffee Break

16:35-16:50 CET

Clinical evaluation of WGS for ID/DD versus current standard of care

16:50-17:25 CET

Genome First: Genome-based Diagnostics and Management of Patients

17:25-18:00 CET

Live Q&A with the invited speakers

18:00-18:30 CET

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