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Miércoles
13 de noviembre
08:00 hrs
Curso Precongreso Especializado
Genetic Variant Interpretation in Monogenic Neurological Disorders
Registration and welcoming
08:00 - 08:30
Neurological disorders through a genetic lens
08:30 - 09:10
- Dr. Dennis Lal
Next-generation sequencing diagnostics for neurological disorders: from a clinical perspective
09:10 - 10:00
- Dr. Luis Leonardo Flores Lagunes
Maximizing Accuracy in Variant Classification: Moving Beyond the Minimum
10:30 - 10:40
- Dr. Dennis Lal
Overview of ACMG Variant Pathogenicity Classification Guidelines
10:40 - 11:00
- Dr. Tobias Brünger
Tools to Apply Up-to-Date Variant Pathogenicity Classification Criteria
11:00 - 12:00
- Dr. Tobias Brünger
- Ms. CGC. Emile Moura Coelho de Silva
Variant Classification Case Examples
12:30 - 13:30
- Dr. Tobias Brünger
- Ms. CGC. Emile Moura Coelho de Silva
Beyond Variant Pathogenicity: Molecular Function & Disease Mechanism
13:30 - 14:00
- Dr. Dennis Lal