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New Applications of Whole Genome Analysis in Rare Disease Diagnostics

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Room Amber 2

MiCo Milano Congressi

Piazzale Carlo Magno, 1

20149 Milano

Italy

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Hear from 3 key members of world-leading institutions on their applications of WGS & analysis for diagnosis of rare disease. Speakers will outline projects where whole genome analysis was applied in novel techniques for more comprehensive diagnoses, and the real-world applications of their project findings.


Talks will include:


The UK PAGE Project: prenatal application of whole exomes and genomes. Ready for the clinic?
Dom McMullan, FRCPath
Birmingham Women’s and Children’s NHS Foundation Trust


Streamlining WES analysis and interpretation: implementing a sequencer into Sapientia software workflow
Yogen Patel, PhD
Congenica

The NIHR BioResource experience: whole genome analysis of patients with rare bleeding and platelet disorders
Karyn Megy, PhD
NIHR BioResource, University of Cambridge

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Location

Room Amber 2

MiCo Milano Congressi

Piazzale Carlo Magno, 1

20149 Milano

Italy

View Map

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