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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.

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): advantages and limitations of each

Periklis Makrythanasis

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School,... More

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

Coffee Break

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

Variant Classification - ACMG Recommendations

Andreas Laner

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

The Ensembl Genome Browser and its possibilities

Louisse Mirabueno

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

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
2:45 PM - 3:15 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: 30 mins
3:15 PM - 3:40 PM

Break & Assemble for Group Photograph

Duration: 25 mins
3:40 PM - 4:10 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
4:10 PM - 4:55 PM

Integration of phenotypic and genomic data for the diagnosis of rare conditions

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: 45 mins
4:55 PM - 5:15 PM

Break

Duration: 20 mins
5:15 PM - 6:00 PM

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
6:00 PM - 6:45 PM

RNA analysis: expanding the Dx yield (practice)

Sara Gutiérrez-Enríquez

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

Duration: 45 mins
6:50 PM - 8:00 PM

Welcome Reception

Duration: 1.17 hours
8:30 AM - 9:15 AM

Long Read Sequencing Approaches

via Zoom

Alexander Hoischen

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

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

Diagnostics beyond the exome

Anna Benet-Pages

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

Duration: 45 mins
10:00 AM - 10:50 AM

ACMG Classification - BASIC/GENERAL

WORKSHOP

Andreas Laner

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

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

Coffee Break

Duration: 30 mins
11:20 AM - 12:50 PM
Gran Catalonia

STREAM A: Ensembl Genome Browser

WORKSHOP

 
Louisse Mirabueno

Duration: 1.5 hours
11:20 AM - 12:50 PM
Sant Jordi

STREAM B: 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
12:50 PM - 1:45 PM

Lunch Break

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

STREAM A: ACMG Classification - ADVANCED

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
Sant Jordi

STREAM B: Diagnosing rare conditions through the integration of phenotypic and genomic data in the RD-Connect GPAP

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 - 3:40 PM

Coffee Break

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

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

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

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
5:10 PM - 5:30 PM

Break

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

STREAM A: Diagnosing rare conditions through the integration of phenotypic and genomic data in the RD-Connect GPAP

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
Sant Jordi

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
Gran Catalonia

STREAM A: 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
9:00 AM - 10:30 AM
Sant Jordi

STREAM B: Ensembl Genome Browser

WORKSHOP

Louisse Mirabueno

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

Coffee Break

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

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
Sant Jordi

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

 

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

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

Variants we almost missed

Steven Laurie

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

Anna Benet-Pages

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

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

Functional Testing of Variants

Marta Pineda

A graduate in Biochemistry and a PhD in Biochemistry and Molecular Biology from the University... More

Jesús del Valle Dominguez

Studied biology at the University of Oviedo an did his PhD in Pompeu Fabra University in the... More

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

Future Developments

via Zoom

Periklis Makrythanasis

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School,... More

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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https://veptc.variome.org

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