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Program

All participants are required to bring a laptop with them to the course

Monday 14th October:

Registration Opens 7.45
Course Begins 8.30
Networking Reception 19.15

 

Tuesday 15th October:

Course continues 8.30 - 19.20


Wednesday 16th October:

Course continues 8.30 - 18.00
Course Ends 18.00 

Draft Program - subject to changes & rearranging!

All attendees will be allocated a group STREAM A or B on thier name badge. If you follow your stream you will attend all the sessions and not miss anything.

7:45 AM - 8:30 AM

Registration

Please do not arrive at the last minute or you may miss the beginning of the session!

Duration: 45 mins
8:30 AM - 8:35 AM

Welcome & Introduction

Dr. Andreas Laner

Chair

Duration: 5 mins
8:35 AM - 9:15 AM

Variants in the genome: types and disease pathomechanisms

Nikos Marinakis

Laboratory of Medical Genetics, National & Kapodistrian University, St. Sophia's Children's... More

Duration: 40 mins
9:15 AM - 9:45 AM

Variant Classification - ACMG Recommendations SNV

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 30 mins
9:45 AM - 10:15 AM

Variant Classification - ACMG Recommendations CNV

Jorge Diogo Da Silva

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More

Duration: 30 mins
10:15 AM - 10:45 AM

Coffee Break

Duration: 30 mins
10:45 AM - 11:15 AM

Variant Classification - CNV Recommendations

Jorge Diogo Da Silva

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More

Duration: 30 mins
11:15 AM - 11:45 AM

The UCSC Genome Browser and its possibilities

Robert Kuhn

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More

Duration: 30 mins
11:45 AM - 12:15 PM

UCSC Genome Browser: The Recommended Track Sets

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Duration: 30 mins
12:15 PM - 12:45 PM

The Ensembl Genome Browser and its possibilities

Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 30 mins
12:45 PM - 1:45 PM

Lunch Break

Duration: 1 hour
1:45 PM - 2:30 PM

Describing variants with the HGVS Nomenclature

WORKSHOP

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 45 mins
2:30 PM - 3:15 PM

Human Phenotype Ontology (HPO) and gene disease association (GenCC)

Nikos Marinakis

Laboratory of Medical Genetics, National & Kapodistrian University, St. Sophia's Children's... More

Duration: 45 mins
3:15 PM - 3:40 PM

Coffee Break

Duration: 25 mins
3:40 PM - 5:10 PM

STREAM B: Qiagen

SPONSORED WORKSHOP

To Be Announced

Duration: 1.5 hours
3:40 PM - 5:10 PM

STREAM A: Ensembl - Annotating Variants with VEP

WORKSHOP

 
Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 1.5 hours
5:10 PM - 5:30 PM

Break

Duration: 20 mins
5:30 PM - 7:00 PM

STREAM A: SNV variant classification workshop - Basic

WORKSHOP

 

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1.5 hours
5:30 PM - 7:00 PM

STREAM B: UCSC Genome Browser Workshop

WORKSHOP

Robert Kuhn

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More

Duration: 1.5 hours
7:15 PM - 9:00 PM

Welcome Reception

Duration: 1.75 hours
8:30 AM - 9:15 AM

Potential consequences on the RNA Level (theory); mechansims of RNA disease

Sara Gutiérrez-Enríquez

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

Duration: 45 mins
9:15 AM - 10:00 AM

RNA analysis: how to interpret RNA data to expand the Dx yield (practice)

Sara Gutiérrez-Enríquez

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More

Duration: 45 mins
10:00 AM - 10:30 AM

Splicing/ Walker et al recommendations

Sara Gutiérrez-Enríquez

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

Duration: 30 mins
10:30 AM - 11:00 AM

Coffee Break

Duration: 30 mins
11:00 AM - 11:30 AM

Gene variant databases (LSDBs) / DNA diagnostics = sharing data

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 30 mins
11:30 AM - 1:00 PM

"What can go wrong" - where the technology fails (lab + bioIT)

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 1.5 hours
1:00 PM - 2:00 PM

Lunch Break

Duration: 1 hour
2:00 PM - 3:30 PM

STREAM B: SNV variant classification workshop - Basic

WORKSHOP

 

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1.5 hours
2:00 PM - 3:30 PM

STREAM A: varvis®: a simplified yet power-packed NGS analysis tool

SPONSORED WORKSHOP

Contact: info@varvis.com

Website: www.varvis.com

 

To Be Announced

Duration: 1.5 hours
3:30 PM - 4:00 PM

Coffee Break

Duration: 30 mins
4:00 PM - 5:30 PM

STREAM A: Qiagen

SPONSORED WORKSHOP

To Be Announced

Duration: 1.5 hours
4:00 PM - 5:30 PM

STREAM B: Mobidetails - Online DNA splice variant interpretation

WORKSHOP

 

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

Duration: 1.5 hours
5:30 PM - 5:50 PM

Break

Duration: 20 mins
5:50 PM - 7:20 PM

STREAM A: Mobidetails - Online DNA splice variant interpretation

WORKSHOP

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

Duration: 1.5 hours
5:50 PM - 7:20 PM

STREAM B: Ensembl: Annotating Variants with VEP

WORKSHOP

Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 1.5 hours
8:30 AM - 9:30 AM

CNV variant classification

WORKSHOP

Jorge Diogo Da Silva

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More

Duration: 1 hour
9:30 AM - 10:30 AM

IGV for short read, long read and RNA plots

WORKSHOP

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Duration: 1 hour
10:30 AM - 11:00 AM

Coffee Break

Duration: 30 mins
11:00 AM - 12:30 PM

STREAM B: varvis®: a simplified yet power-packed NGS analysis tool

SPONSORED WORKSHOP

Contact: info@varvis.com

Website: www.varvis.com

To Be Announced

Duration: 1.5 hours
11:00 AM - 12:30 PM

STREAM A: SNV variant classification workshop - Advanced

WORKSHOP

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1.5 hours
12:30 PM - 1:30 PM

Lunch Break

Duration: 1 hour
1:30 PM - 3:00 PM

STREAM A: UCSC Genome Browser

WORKSHOP

Robert Kuhn

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More

Duration: 1.5 hours
1:30 PM - 3:00 PM

STREAM B: SNV variant classification workshop - Advanced

WORKSHOP

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1.5 hours
3:00 PM - 3:30 PM

Coffee Break

Duration: 30 mins
3:30 PM - 4:00 PM

gnomAD

DEMONSTRATION

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Nikos Marinakis

Laboratory of Medical Genetics, National & Kapodistrian University, St. Sophia's Children's... More

Duration: 30 mins
4:00 PM - 5:00 PM

"Thinking out of the box" - Clinical reasons, beyond the exome, etc

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 1 hour
5:00 PM - 5:45 PM

Future Perspective for Dx: Proteomics, Methylation, PRS, (Somalogic, Episign, Allelica) and how to translate to

diagnostics

To Be Announced

Duration: 45 mins
5:45 PM - 6:00 PM

Summary & Close

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 15 mins

Secure your place!

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