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program

draft program - shown in Central European Daylight Time: UTC + 2

program is draft - we may make some small changes

Schedule

Time shown is Central European Daylight Time. UTC +2. ON-DEMAND: Long Read Sequencing Approaches, WES Analysis.

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

EMQN - genomics quality assurance

Rachel Taylor

Manchester Science Park, Manchester, UK

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 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 - 5:20 PM

The UCSC Browser and its possibilities

Robert Kuhn

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

Duration: 30 mins
5:20 PM - 6:00 PM

Variant Effect Predictor

WORKSHOP

Aleena Mushtaq

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

Duration: 40 mins
7:30 AM - 8:15 AM

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

To Be Announced

Duration: 45 mins
8:15 AM - 9:00 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
9:00 AM - 9:30 AM

Variants in the mitochondrial genome

Holger Proksich

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

Duration: 30 mins
9:30 AM - 10:00 AM

Coffee Break

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

ACMG grading - BASIC/GENERAL

WORKSHOP

 

Andreas Laner

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

Duration: 1.5 hours
11:30 AM - 12:00 PM

Coffee Break

Duration: 30 mins
12:00 PM - 12:45 PM

Variant Annotation Integrator

WORKSHOP

Anna Benet-Pages

Anna is head of the Development and Technology Transfer department at the Munich Medical... More

Robert Kuhn

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

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

Lunch Break

Duration: 1 hour
1:45 PM - 3:15 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
3:15 PM - 3:45 PM

Coffee Break

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

varvis genomics platform

SPONSORED WORKSHOP

The varvis® genomics platform is a cloud-based and standardized software solution for clinical genetics. It supports the entire NGS workflow from raw data processing and genomics data management to variant interpretation and includes clinically validated and automated CNV and SNV/Indel analysis. varvis® allows you to build your own comprehensive in-house variant database from the entire analysis history, but also leverages the variant data from all users to help solving even complex WES or WGS cases. Our services comprise first-class support, training, automated quality control and validation compliant with relevant international guidelines. varvis® is a registered CE-IVD device and as such specifically designed to aid in the diagnosis of patients.

Contact: info@varvis.com

Website: www.varvis.com

To Be Announced

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

Break

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

Ensembl Genome Browser

WORKSHOP

 

Aleena Mushtaq

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

Duration: 1.5 hours
7:30 AM - 8:10 AM

RNA analysis: expanding the Dx yield (practice)

To Be Announced

Duration: 40 mins
8:10 AM - 8:50 AM

Functional Testing (Protein plus RNA) / (Potential consequences on the Protein Level)

To Be Announced

Duration: 40 mins
8:50 AM - 9:30 AM

Epigenetics - beyond Mendel

To Be Announced

Duration: 40 mins
9:30 AM - 10:00 AM

Coffee Break

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

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 the Development and Technology Transfer department at the Munich Medical... More

Duration: 1.5 hours
11:30 AM - 12:00 PM

Coffee Break

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

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

WORKSHOP

To Be Announced

Duration: 1.5 hours
1:30 PM - 2:30 PM

Lunch Break

Duration: 1 hour
2:30 PM - 4:00 PM

ACMG grading - ADVANCED

WORKSHOP

 

Andreas Laner

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

Duration: 1.5 hours
4:00 PM - 4:30 PM

Coffee Break

Duration: 30 mins
4:30 PM - 5:00 PM

Future Developments

Johan T. den Dunnen

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

Andreas Laner

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

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

Course Evaluation & Close

Andreas Laner

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

To Be Announced

Duration: 15 mins