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Program

Monday 2nd October:

Registration Opens 7.45
Course Begins 8.30
Networking Reception 19.30

 

Tuesday 3rd October:

Course continues 8.00 - 19.00


Wednesday 4th October:

Course continues 8.30 - 18.00
Course Ends 18.00 

Draft Program Below. Subject to some small changes and possible rearranging.  

 

7:45 AM - 8:30 AM

Registration

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: position and possible consequences

Joanne Traeger-Synodinos

Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens... More

Duration: 40 mins
9:15 AM - 10:15 AM

NGS: what method to apply (gene panel, WES or WGS) and where technology fails

Ales Maver

Institute of Medical Genetics Ljublijana, Slovenia    

Duration: 1 hour
10:15 AM - 10:45 AM

Coffee Break

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

Variant calling - short read vs. long read

Anna Benet-Pages

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

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

HGVS Nomenclature - describing variants

WORKSHOP

Johan T. den Dunnen

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

Duration: 1.25 hours
12:45 PM - 1:45 PM

Lunch Break

Duration: 1 hour
1:45 PM - 2:15 PM

Variant Classification - ACMG Recommendations

Andreas Laner

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

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

The Ensembl Genome Browser and its possibilities

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 30 mins
2:45 PM - 2:50 PM

Energizer

Reset your brain

Duration: 5 mins
2:50 PM - 3:20 PM

The UCSC Genome Browser and its possibilities

Robert Kuhn

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More

Duration: 30 mins
3:20 PM - 3:50 PM

Gene variant databases & sharing information

Johan T. den Dunnen

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

Duration: 30 mins
3:50 PM - 4:15 PM

Coffee Break

Duration: 25 mins
4:15 PM - 4:45 PM

How to use The Integrative Genomics Viewer (IGV) for different applications

Anna Benet-Pages

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

Duration: 30 mins
4:45 PM - 5:15 PM

Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)

Steven Laurie

Centro Nacional de Análisis Genómico (CNAG-CRG), Barcelona, Spain.  

Leslie Matalonga

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More

Duration: 30 mins
5:15 PM - 5:45 PM

Assemble for Group Photograph & Refresh Break

Duration: 30 mins
5:45 PM - 7:15 PM

STREAM A: Ensembl Genome Browser

WORKSHOP

 

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 1.5 hours
5:45 PM - 7:15 PM

STREAM B: UCSC Genome Browser

WORKSHOP

 

Robert Kuhn

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More

Duration: 1.5 hours
7:15 PM - 7:30 PM

Refresh Break

Duration: 15 mins
7:30 PM - 9:00 PM

Welcome Reception

Duration: 1.5 hours
8:30 AM - 9:15 AM

Potential consequences on the RNA Level (theory)

Andreas Laner

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

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

RNA analysis: expanding the Dx yield (practice)

zTo Be Announced

More speakers to be announced when confirmed!

Duration: 45 mins
10:00 AM - 10:05 AM

Energizer

Reset your brain

Duration: 5 mins
10:05 AM - 10:50 AM

Variants in the Mitochondrial Genome

Holger Prokisch

Holger Prokisch, PhD, is head of the research group “Genetics of Mitochondrial... More

Duration: 45 mins
10:50 AM - 11:20 AM

Coffee Break

Duration: 30 mins
11:20 AM - 12:05 PM

Long Read Sequencing Approaches

Alexander Hoischen

Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More

Duration: 45 mins
12:05 PM - 12:50 PM

UCSC Genome Browser: The Recommended Track Sets

WORKSHOP

Anna Benet-Pages

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

Duration: 45 mins
12:50 PM - 1:45 PM

Lunch Break

Duration: 55 mins
1:45 PM - 3:15 PM

STREAM A: ACMG Classification - BASIC/GENERAL

WORKSHOP

 

Andreas Laner

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

Duration: 1.5 hours
1:45 PM - 3:15 PM

STREAM B: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)

WORKSHOP

Steven Laurie

Centro Nacional de Análisis Genómico (CNAG-CRG), Barcelona, Spain.  

Leslie Matalonga

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More

Duration: 1.5 hours
3:15 PM - 3:45 PM

Coffee Break

Duration: 30 mins
3:45 PM - 5:15 PM

STREAM A: Workshop TBA

WORKSHOP

Duration: 1.5 hours
3:45 PM - 5:15 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
5:15 PM - 5:30 PM

Refresh Break

Duration: 15 mins
5:30 PM - 7:00 PM

STREAM A: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)

WORKSHOP

Steven Laurie

Centro Nacional de Análisis Genómico (CNAG-CRG), Barcelona, Spain.  

Leslie Matalonga

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More

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

STREAM B: ACMG Classification ADVANCED

WORKSHOP

Andreas Laner

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

Duration: 1.5 hours
9:00 AM - 10:30 AM

STREAM A: UCSC Genome Browser Workshop

WORKSHOP

Robert Kuhn

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More

Duration: 1.5 hours
9:00 AM - 10:30 AM

STREAM B: Ensembl Genome Browser

WORKSHOP

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 1.5 hours
10:30 AM - 11:00 AM

Coffee Break

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

STREAM B: Workshop TBA

WORKSHOP

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

Lunch Break

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

NGS in diagnostics: where things can go wrong

WORKSHOP

Johan T. den Dunnen

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

Anna Benet-Pages

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

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

Coffee Break

Duration: 30 mins
3:30 PM - 4:15 PM

Functional Testing of Variants

zTo Be Announced

More speakers to be announced when confirmed!

Duration: 45 mins
4:15 PM - 5:00 PM

AI Based Variant Interpretation Tools

zTo Be Announced

More speakers to be announced when confirmed!

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

Future Developments

zTo Be Announced

More speakers to be announced when confirmed!

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

Course Evaluation & Close

Andreas Laner

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

Duration: 15 mins

 

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