| DIA |
10 October |
|
Ponente |
| 8:00 |
Inscripciones |
|
|
| 8:30 |
Bienvenida Autoridades del Centro Médico
|
TBA |
| 8:45 |
Evaluación diagnóstico participantes |
|
|
| 9:15 |
Introducción a la genómica traslacional |
|
UMG |
| 9:45 |
Importancia de los estudios genómicos en la practica clínica
|
Dra. Alessandra Carnevale Cantoni |
| 10:15 |
Coffee Break |
|
|
| 10:45 |
Importancia de la bioinformática en la practica clínica
|
Dra. Sandra Romero Hidalgo |
| 11:15 |
Análisis primario, secundario y terciario en sec. masiva.
|
M. en C. Tobías Portillo |
| 11:45 |
Ejemplo de secuenciación masiva en la clínica
|
Dr. Juan Carlos Zenteno Ruiz |
| 12:15 |
Importancia de secuenciar y compartir los datos en hemoglobinopatías |
Dra. Bertha Ibarra |
| 12:45 |
Sesión de preguntas de bloque |
|
M. en C. Silvia Garcia |
| 13:00 |
Break Lunch |
|
|
| 14:30 |
Introduction; NGS terminology, types of variants
|
Johan den Dunnen, Prof. |
| 15:00 |
Characteristics of the NGS sequencing methods |
|
Johan den Dunnen, Prof. |
| 15:30 |
Quality Assurance and guidelines for diagnostics NGS
|
Claudia Ruivenkamp,PhD |
| 16:15 |
Making the DNA sequence-ready; wet lab procedures
|
Dr. Alfredo Mendoza |
| 17:00 |
Break |
|
|
| 17:30 |
Bioanalizador |
Fluoròmetro |
|
| 18:30 |
|
|
|
| 18:45 |
Bioanalizador |
Fluoròmetro
|
|
| 19:45 |
Close |
|
|
| |
|
|
|
| DIA |
11 October |
|
|
| 8:00 |
Targeted gene panels |
|
Luz B. López Hdz. / Dra. Rocío Ortiz López |
| 8:45 |
Exome sequencing; targets, hybridisation capture
|
Johan den Dunnen, Prof. |
| 9:30 |
The data and how they flow |
|
Christian Gilissen, PhD |
| 10:15 |
Coffee Break |
|
|
| 10:45 |
The UCSC browser & how to check potential consequences of a variant |
Robert Kuhn, PhD |
| 11:30 |
Calling variants; from simple (SNVs) to complex (SVs)
|
Christian Gilissen, PhD |
| 12:15 |
Sesión de preguntas de bloque |
|
M. en C. Tobías Portillo |
| 12:30 |
Break Lunch |
|
|
| 14:00 |
Practica 1 |
Practica 2 |
|
| 16:00 |
Break |
|
|
| 16:30 |
Practica 1 |
Practica 2 |
|
| 18:30 |
Close |
|
|
| |
|
|
|
| |
|
|
|
| DIA |
12 October |
|
|
| 8:00 |
ELSI aspects; ethical, legal and social issues
|
Dr.Jorge Alberto Álvarez Díaz |
| 8:45 |
WES/WGS in practice; successes, failures, secondary findings
|
Claudia Ruivenkamp,PhD |
| 9:30 |
Share your findings |
|
Sir John Burn ,PhD |
| 10:15 |
Coffee Break |
|
|
| 10:45 |
WG vs WE sequencing; pros/cons both methods
|
Christian Gilissen, PhD |
| 11:30 |
Research and Development in Human Genetics
|
Johan den Dunnen, PhD |
| 12:15 |
Sesión de preguntas de bloque |
|
Luz B. Lopez – Christian Toledo |
| 12:30 |
Break Lunch |
|
|
| 14:00 |
LOVD+ |
UCSC |
|
| 16:00 |
Break |
|
|
| 16:30 |
LOVD+ |
UCSC |
|
| 18:30 |
Close |
|
|
| |
|
|
|
| DIA |
13 October |
|
|
| 8:00 |
Uso de la NGS para la medicina de precisión
|
Dr. Herbert García |
| 8:45 |
Functional validation of variants; RNA, protein, expression, functional assays |
Dr. Ramón Coral Vázquez |
| 9:30 |
…practical diagnostic example México |
|
|
| 10:15 |
Break |
|
|
| 10:30 |
“Genoma, transcriptoma y proteoma: un ejemplo con Leshmania mexicana” |
Dra. Edith Araceli Fernández Figueroa |
| 11:00 |
Estrategias y herramientas bioinformáticas para análisis de datos de exoma |
Dr. Gerardo Javier Alanis Funes |
| 11:30 |
NGS en Enfermedades Huerfanas : Una oportunidad para el desarrollo
|
Dra. Alejandra Camacho |
| 12:00 |
Future developments |
|
Sir John Burn, Prof. |
| 12:45 |
Data Sharing in Traslacional Genetics : The Mexican node
|
Dr. Augusto Rojas Martínez |
| 13:30 |
Sesión de preguntas de bloque |
|
Johan den Dunnen, Prof. |
| 13:45 |
Evaluation of course |
|
|
| 14:30 |
Meeting ENDS |
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