
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.
Registration
Welcome & Introduction
Dr. Andreas Laner
Chair
Variants in the Genome: position and possible consequences

Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens... More
NGS: what method to apply (gene panel, WES or WGS) and where technology fails

Institute of Medical Genetics Ljublijana, Slovenia
Coffee Break
Variant calling - short read vs. long read

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
HGVS Nomenclature - describing variants
WORKSHOP

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Lunch Break
Variant Classification - ACMG Recommendations

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
The Ensembl Genome Browser and its possibilities

Ensembl Outreach Officer TBA.
Energizer
Reset your brain
The UCSC Genome Browser and its possibilities

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Gene variant databases & sharing information

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Coffee Break
How to use The Integrative Genomics Viewer (IGV) for different applications

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)

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

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More
Assemble for Group Photograph & Refresh Break
STREAM A: Ensembl Genome Browser
WORKSHOP

Ensembl Outreach Officer TBA.
STREAM B: UCSC Genome Browser
WORKSHOP

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Refresh Break
Welcome Reception
Potential consequences on the RNA Level (theory)

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
RNA analysis: expanding the Dx yield (practice)

More speakers to be announced when confirmed!
Energizer
Reset your brain
Variants in the Mitochondrial Genome

Holger Prokisch, PhD, is head of the research group “Genetics of Mitochondrial... More
Coffee Break
Long Read Sequencing Approaches

Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More
UCSC Genome Browser: The Recommended Track Sets
WORKSHOP

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Lunch Break
STREAM A: ACMG Classification - BASIC/GENERAL
WORKSHOP

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
STREAM B: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
WORKSHOP

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

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More
Coffee Break
STREAM A: Workshop TBA
WORKSHOP
STREAM B: Mobidetails - Online DNA splice variant interpretation
WORKSHOP

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
Refresh Break
STREAM A: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
WORKSHOP

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

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a... More
STREAM B: ACMG Classification ADVANCED
WORKSHOP

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
STREAM A: UCSC Genome Browser Workshop
WORKSHOP

Robert was Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
STREAM B: Ensembl Genome Browser
WORKSHOP

Ensembl Outreach Officer TBA.
Coffee Break
STREAM A: Mobidetails - Online DNA splice variant interpretation
WORKSHOP

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
STREAM B: Workshop TBA
WORKSHOP
Lunch Break
NGS in diagnostics: where things can go wrong
WORKSHOP

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

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Coffee Break
Functional Testing of Variants

More speakers to be announced when confirmed!
AI Based Variant Interpretation Tools

More speakers to be announced when confirmed!
Future Developments

More speakers to be announced when confirmed!
Course Evaluation & Close

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