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Program

All times are Central European Summer Time (CETS)

CEST = UTC + 2

Find the local time in your city here for the 8.00 am start on 21st Sept.  We are using Paris as the home city for CEST.  

Tuesday 21 Sept. 2021:  

  • Familiariasation with platform opens - 8.00
  • Course Begins - 8.50
  • End Day 1 - 16.00

Wednesday 22 Sept:

  • Course continues 8.30 - 17.05

Thursday 23 Sept.: 

  • Course continues 8.30 - 16.30
  • Course Ends 16.30

 

Core topics will be presented during the three-day course.  Other topics will be available as on-demand content for six months.

Draft Program

ON-DEMAND: - Human Phenotype Ontology (HPO) - describing phenotypes (Lecture & Workshop). - WES analysis/ LOVD+ (Lecture & Workshop). - Others to be announced.

8:00 AM - 8:20 AM

Platform Familiarisation

Familiarise yourself with the platform, view the sessions, poster selections, exhibitors and speakers and learn how to navigate before the event.   Please login BEFORE the start day to setup your profile and if possible familiarise yourself with the platform to save you time at the beginning of the course and ensure you do not miss anything in case you have any problems with login.  We will email you the login instructions approximately one week or slightly earlier before the course start.

Duration: 20 mins
8:20 AM - 8:30 AM

Course Welcome

Dr Andreas Laner

Chair

Duration: 10 mins
8:30 AM - 9:10 AM

Variants in the Genome: position and possible consequences

Joanne Traeger-Synodinos

Jan Traeger-Synodinos, DPhil (Oxon) Jan is a Professor of Genetics, and Director of the... More

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

NGS: what method to apply (gene panel, WES or WGS) and where technology fails

Ales Maver

Institute of Medical Genetics - Ljubljana University Medical Centre, Ljublijana, Slovenia Bio... More

Duration: 40 mins
10:00 AM - 10:20 AM

Break

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

HGVS Nomenclature - describing variants

Johan T. den Dunnen

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

Duration: 30 mins
10:50 AM - 11:50 AM

WORKSHOP: HGVS Nomenclature - describing variants

Johan T. den Dunnen

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

Duration: 1 hour
11:50 AM - 12:30 PM

Break

Duration: 40 mins
12:30 PM - 1:10 PM

CNV calling/ analysis: applications and challenges

Steven Laurie

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

Duration: 40 mins
1:10 PM - 2:10 PM

WORKSHOP: Variant interpretation & reporting: what’s best for your lab? Standalone databases or a decision support tool

Sponsored Workshop

LINK TO ABSTRACT

Ruth Burton

QIAGEN Advanced Genomics, Manchester, UK

Duration: 1 hour
2:10 PM - 2:30 PM

Break

Duration: 20 mins
2:30 PM - 3:10 PM

SNV calling/ analysis: applications and challenges

Anna Benet-Pages

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

Duration: 40 mins
3:10 PM - 3:50 PM

Fast Forward Poster Presentations

Duration: 40 mins
8:30 AM - 9:10 AM

Gene variant databases (LSDBs) / DNA diagnostics = sharing data

Johan T. den Dunnen

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

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

Genome Browsers - Ensembl

To Be Announced

more speakers to be confirmed - watch this space!

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

WORKSHOP: Genome Browsers - Ensembl

To Be Announced

more speakers to be confirmed - watch this space!

Duration: 1 hour
10:50 AM - 11:10 AM

Break

Duration: 20 mins
11:10 AM - 11:40 AM

Variant Classification - ACMG Recommendations

Andreas Laner

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

Duration: 30 mins
11:40 AM - 12:40 PM

WORKSHOP: Variant Classification - ACMG Recommendations

To be advised

Andreas Laner

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

Duration: 1 hour
12:40 PM - 1:10 PM

Break

Duration: 30 mins
1:10 PM - 1:40 PM

Annotating Variants: VEP

To Be Announced

more speakers to be confirmed - watch this space!

Duration: 30 mins
1:40 PM - 2:40 PM

WORKSHOP: To be Announced

Topic to be announced

To Be Announced

more speakers to be confirmed - watch this space!

Duration: 1 hour
2:40 PM - 3:00 PM

Break

Duration: 20 mins
3:00 PM - 3:30 PM

When do I have enough evidence to link a (new) gene with a disease?

To Be Announced

more speakers to be confirmed - watch this space!

Duration: 30 mins
3:30 PM - 4:00 PM

Genome Browsers - UCSC

Robert Kuhn

Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

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

WORKSHOP: Genome Browsers - UCSC

Robert Kuhn

Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

Duration: 1 hour
8:30 AM - 9:10 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: 40 mins
9:10 AM - 9:50 AM

RNA analysis: expanding the Dx yield (practice)

Antonio Vitobello

Bio coming 

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

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

To Be Announced

more speakers to be confirmed - watch this space!

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

Break

Duration: 20 mins
11:00 AM - 12:30 PM

WORKSHOP: NGS in diagnostics: where things can go wrong

Anna Benet-Pages

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

Duration: 1.5 hours
12:30 PM - 1:00 PM

Break

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

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

Leslie Matalonga

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

Duration: 30 mins
1:30 PM - 2:30 PM

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

Leslie Matalonga

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

Duration: 1 hour
2:30 PM - 2:50 PM

Break

Duration: 20 mins
2:50 PM - 3:20 PM

UCSC recommended track sets

Robert Kuhn

Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

Duration: 30 mins
3:20 PM - 4:00 PM

Future Developments

Periklis Makrythanasis

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

Duration: 40 mins
4:00 PM - 4:30 PM

Course Evaluation

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