
Program
All in-person participants are required to bring a laptop with them to the course
Monday 2nd October:
Registration Opens 8.00
Course Begins 8.30
Networking Reception 18.50
Tuesday 3rd October:
Course continues 8.30 - 19.00
Wednesday 4th October:
Course continues 9.00 - 18.00
Course Ends 18.00
! Virtual Participants
- All sessions will be live-streamed according to the time listed. The times are shown in CEST, UTC+2 ie Barcelona local time.
- Only Stream A Workshops will be live-streamed. All workshops are repeated in both streams, you will not miss anything.
- Everything will be recorded and available in the ePortal in case you miss anything.
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): advantages and limitations of each

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School,... More
Coffee Break
Variant Classification - ACMG Recommendations

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
HGVS Nomenclature - describing variants
WORKSHOP

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Lunch Break
The Ensembl Genome Browser and its possibilities

The UCSC Genome Browser and its possibilities

Robert Kuhn received his PhD in biochemistry and molecular biology at the University 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
Break & Assemble for Group Photograph
Gene variant databases & sharing information

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Integration of phenotypic and genomic data for the diagnosis of rare conditions

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

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

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More
Welcome Reception
Long Read Sequencing Approaches
via Zoom

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

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

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

STREAM B: UCSC Genome Browser
WORKSHOP

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
Lunch Break
STREAM A: ACMG Classification - ADVANCED
WORKSHOP

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
STREAM B: Diagnosing rare conditions through the integration of phenotypic and genomic data in the RD-Connect GPAP
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: varvis®: a simplified yet power-packed NGS analysis tool
SPONSORED WORKSHOP
Introduction to varvis®- A simplified, yet power-packed NGS analysis tool
Dr. Katharina Garbe, Limbus Medical Technologies GmbH
NGS data analysis in uncovering diagnoses- a presentation of clinical cases
Dr. Guido Neidhardt, Synlab Holding Germany GmbH
Hands-on whole exome analysis training
Irene Patric, Limbus Medical Technologies GmbH
Contact: info@varvis.com
Website: www.varvis.com
STREAM B: Mobidetails - Online DNA splice variant interpretation
WORKSHOP

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
Break
STREAM A: Diagnosing rare conditions through the integration of phenotypic and genomic data in the RD-Connect GPAP
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 Kuhn received his PhD in biochemistry and molecular biology at the University of... More
STREAM B: Ensembl Genome Browser
WORKSHOP

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: varvis®: a simplified yet power-packed NGS analysis tool
SPONSORED WORKSHOP
Introduction to varvis®- A simplified, yet power-packed NGS analysis tool
Dr. Katharina Garbe, Limbus Medical Technologies GmbH
NGS data analysis in uncovering diagnoses- a presentation of clinical cases
Dr. Guido Neidhardt, Synlab Holding Germany GmbH
Hands-on whole exome analysis training
Irene Patric, Limbus Medical Technologies GmbH
Contact: info@varvis.com
Website: www.varvis.com
Lunch Break
NGS in diagnostics: where things can go wrong
WORKSHOP

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

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

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

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School,... More
Course Evaluation & Close

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