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program

time shown is Central European Daylight Time: UTC + 2

FINAL PROGRAM!

Schedule

Time shown is Central European Daylight Time. UTC +2. ON-DEMAND: Introduction to HPO & Potential Consequences on the RNA Level

8:15 AM - 8:20 AM

Welcome & Introduction

Dr. Andreas Laner

Chair

Duration: 5 mins
8:20 AM - 9:00 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
9:00 AM - 10:00 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
10:00 AM - 10:30 AM

Coffee Break

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

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: 40 mins
11:10 AM - 11:50 AM

The Role of External Quality Assessment in Standardisation of Genomic Variant Reporting for Improved Clinical Outcomes

Rachel Taylor

Rachel obtained her PhD in Genomics from the University of Manchester before undertaking an... More

Duration: 40 mins
11:50 AM - 1:00 PM

Lunch Break

Duration: 1.17 hours
1:00 PM - 2:30 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: 1.5 hours
2:30 PM - 3:00 PM

Coffee Break

Duration: 30 mins
3:00 PM - 3:50 PM

Variant Classification - ACMG Recommendations

Andreas Laner

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

Duration: 50 mins
3:50 PM - 4:20 PM

Coffee Break

Duration: 30 mins
4:20 PM - 4:50 PM

The Ensembl Genome Browser and its possibilities

Aleena Mushtaq

Aleena studied Molecular and Biomedical Sciences at King’s College London. She joined the... More

Duration: 30 mins
4:50 PM - 6:20 PM

Ensembl Genome Browser

WORKSHOP

 

Aleena Mushtaq

Aleena studied Molecular and Biomedical Sciences at King’s College London. She joined the... More

Duration: 25.5 hours
8:30 AM - 9:00 AM

Diagnosing paediatric mitochondrial disease by whole exome sequencing: lessons from 2,000 cases

Holger Proksich

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

Duration: 30 mins
9:00 AM - 9:30 AM

The UCSC Genome Browser and its possibilities

Robert Kuhn

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

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

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: 45 mins
10:15 AM - 10:45 AM

Coffee Break

Duration: 30 mins
10:45 AM - 12:15 PM

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
12:15 PM - 1:15 PM

Lunch Break

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

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
2:45 PM - 3:15 PM

Coffee Break

Duration: 30 mins
3:15 PM - 4:45 PM

Whole exome analysis in clinical diagnostics using the varvis® software: a simplified yet power-packed NGS analysis tool

SPONSORED WORKSHOP

Large NGS-based panels and Whole Exome Sequencing have become the first-line diagnostics in most European countries. This has led to the generation of huge amounts of data that need to be processed, assessed, and interpreted with confidence. Using the varvis® software, you get both the software and all the support you need – as a service. 

In this workshop, you will:

  • See how the varvis® software enables you to quickly solve whole exome cases by fully evaluating all available information
  • Learn about the additional varvis® Services including training, support, and validation
  • Get free trial access to the varvis® Academy to train yourself with videos, quizzes, and tests
  • Be surprised with how even extraordinary variants can be detected and interpreted with ease in varvis®

Contact: info@varvis.com

Website: www.varvis.com

Irene Patric

Irene has many years of experience in clinical genomics, bioinformatics, and diagnostic... More

Lena Hausdorf

Lena holds a PhD in Molecular Biology and has extensive experience in optimization and... More

Duration: 1.5 hours
4:45 PM - 5:05 PM

Break

Duration: 20 mins
5:05 PM - 6:35 PM

UCSC Genome Browser

WORKSHOP

 

Robert Kuhn

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

Duration: 1.5 hours
8:30 AM - 9:10 AM

RNA-seq for Mendelian disease diagnostics: expanding diagnostic yield

Dmitrii Smirnov

Institut für Humangenetik

Fatemeh Peymani

Duration: 40 mins
9:10 AM - 9:50 AM

Validating variants in intersex conditions: lessons learned

Vince Harley

Professor Vincent Harley leads the Sex Determination and Gonadal Development Research Group in... More

Duration: 40 mins
9:50 AM - 10:30 AM

Long Read Sequencing Apporoaches

Dieter Wolf

Duration: 40 mins
10:30 AM - 11:00 AM

Coffee Break

Duration: 30 mins
11:00 AM - 12:30 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
12:30 PM - 1:30 PM

Lunch Break

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

ACMG Classification - 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 - 4:15 PM

Variant Effect Predictor

WORKSHOP

Aleena Mushtaq

Aleena studied Molecular and Biomedical Sciences at King’s College London. She joined the... More

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

Robert Kuhn

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

Duration: 45 mins
5:00 PM - 5:20 PM

Break

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

Future Developments

Periklis Makrythanasis

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

Duration: 30 mins
5:50 PM - 6:00 PM

Course Evaluation & Close

Stay online and join us for the veptc 2022 party at the end of the session!

Andreas Laner

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

Duration: 10 mins
6:00 PM - 6:30 PM

veptc 2022 party

turn on your video & stay in zoom to join the party!

!

Duration: 30 mins