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program

draft program - shown in Eastern European Daylight Time: UTC + 3

subject to changes & rearranging!

a note about workshops

Workshops will be held concurrently throughout the program.

In most concurrent sets there will be two workshops for in-person attendees and one workshop for virtual attendees.

virtual attendees

  • Virtual attendees do not need to select a workshop.
  • All workshop topics will be delivered.
  • Please note although these try to be interactive they will not be as interactive as the in-person workshops.

in-person attendees

  • The program allows each attendee to attend all workshops. In-person attendees will be asked to select a workshop in each concurrent set during registration. 
  •  "Basic" or "Advanced" options for "ACMG grading", "UCSC genome browser" and "Ensembl genome browser" workshops will be available.  Attendees with good working knowledge are encouraged to select the "Advanced" options, all other attendees should choose the "Basic" option.  
  • Please ensure you view the PDF program BEFORE you register so you are ready to select which workshops you wish to attend during registration.

program is draft - we may make some small changes and possibly add more workshops

ON-DEMAND: - Long Read Sequencing Approaches: Alex Hoischen (To be confirmed) - Human Phenotype Ontology (HPO) - describing phenotypes: Periklis Makrythanassis - WES analysis: TBA

8:30 AM - 9:15 AM
UNESCO Foyer

Registration

In-Person attendees arrive, register and collect name badge.

Duration: 45 mins
9:15 AM - 9:20 AM
UNESCO

Welcome & Introduction

Dr. Andreas Laner

Chair

Duration: 5 mins
9:20 AM - 10:00 AM
UNESCO

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
10:00 AM - 11:00 AM
UNESCO

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
11:00 AM - 11:30 AM
The Block Restaurant

Coffee Break

Duration: 30 mins
11:30 AM - 12:10 PM
UNESCO

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
12:10 PM - 12:50 PM

EMQN - genomics quality assurance

virtual presentation 

Rachel Taylor

Bio TBA

Duration: 40 mins
12:50 PM - 1:50 PM
The Block Restaurant

Lunch Break

Duration: 1 hour
1:50 PM - 2:20 PM
UNESCO

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
2:20 PM - 2:50 PM
UNESCO

The Ensembl Browser and its possibilities

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 30 mins
2:50 PM - 3:20 PM
UNESCO

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
3:20 PM - 3:50 PM
The Block Restaurant

Coffee Break

Duration: 30 mins
3:50 PM - 4:40 PM
UNESCO

Variant Classification - ACMG Recommendations

Andreas Laner

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

Duration: 50 mins
4:40 PM - 5:00 PM

Refresh Break

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

WORKSHOP: HGVS Nomenclature - describing variants

CONCURRENT WORKSHOPS 1

Johan T. den Dunnen

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

Duration: 1.5 hours
5:00 PM - 6:30 PM
Plato

WORKSHOP: ACMG grading - BASIC

CONCURRENT WORKSHOPS 1

For in-person attendees with little or no knowledge of ACMG grading. 

Andreas Laner

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

Duration: 1.5 hours
5:00 PM - 6:30 PM
Virtual

WORKSHOP: UCSC Genome Browser - VIRTUAL

CONCURRENT WORKSHOPS 1

 

Robert Kuhn

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

Duration: 1.5 hours
8:30 AM - 9:15 AM
UNESCO

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

To Be Announced

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

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
10:00 AM - 10:30 AM
UNESCO

Variants in the mitochondrial genome

To Be Announced

Duration: 30 mins
10:30 AM - 11:00 AM
The Block Restaurant

Coffee Break

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

WORKSHOP: HGVS Nomenclature - describing variants

CONCURRENT WORKSHOPS 2

Johan T. den Dunnen

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

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

WORKSHOP: ACMG grading - ADVANCED

CONCURRENT WORKSHOPS 2

Advanced workshop for those who are very knowledgable on ACMG grading. If you are not, please choose the other "Basic" workshop on Tues. 20 Sept. and select HGVS nomenclature workshop instead in this set of concurrent workshops.

Andreas Laner

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

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

WORKSHOP: Ensembl Genome Browser - VIRTUAL

CONCURRENT WORKSHOPS 2

 

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 1.5 hours
12:30 PM - 1:30 PM
The Block Restaurant

Lunch Break

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

Workshop: NGS in diagnostics: where things can go wrong

CONCURRENT WORKSHOPS 3

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
1:30 PM - 3:00 PM
Plato

WORKSHOP: UCSC Genome Browser - BASIC

CONCURRENT WORKSHOPS 3

BASIC workshop for UCSC Genome Browser for attendees with little or no working knowledge

Robert Kuhn

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

Duration: 1.5 hours
1:30 PM - 3:00 PM
Virtual

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

CONCURRENT WORKSHOPS 3

 

To Be Announced

Duration: 1.5 hours
3:00 PM - 3:30 PM
The Block Restaurant

Coffee Break

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

WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor

CONCURRENT WORKSHOPS 4

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

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 45 mins
3:30 PM - 5:00 PM
Rouso

WORKSHOP: varvis genomics platform

CONCURRENT WORKSHOPS 4 - Sponsored Workshop

The varvis® genomics platform is a complete solution for clinical diagnostics, supporting NGS raw data processing, genomics data management, and variant interpretation. Automated CNV and SNV analysis are clinically validated and completely integrated into the NGS workflow.

To Be Announced

Duration: 1.5 hours
3:30 PM - 5:00 PM
Virtual

WORKSHOP: HGVS Nomenclature - describing variants - VIRTUAL

CONCURRENT WORKSHOPS 4

 

Johan T. den Dunnen

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

Duration: 1.5 hours
5:00 PM - 5:15 PM

Refresh Break

Duration: 15 mins
5:15 PM - 6:45 PM
Plato

WORKSHOP: Ensembl Genome Browser - BASIC

CONCURRENT WORKSHOPS 5

For in-person attendees with little or basic knowledge.  Please choose the other option if you have good knowledge and select the advanced Ensembl workshop on Fri. 23rd Sept. instead.

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 1.5 hours
5:15 PM - 6:45 PM
Rouso

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

CONCURRENT WORKSHOPS 5

To Be Announced

Duration: 1.5 hours
5:15 PM - 6:45 PM
Virtual

Workshop: NGS in diagnostics: where things can go wrong - VIRTUAL

CONCURRENT WORKSHOPS 5

 

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
7:30 PM - 10:00 PM

Conference Dinner

Location to be announced

Duration: 2.5 hours
8:30 AM - 9:10 AM
UNESCO

RNA analysis: expanding the Dx yield (practice)

To Be Announced

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

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

To Be Announced

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

Epigenetics - beyond Mendel

To Be Announced

Duration: 40 mins
10:30 AM - 11:00 AM
The Block Restaurant

Coffee Break

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

WORKSHOP: varvis genomics platform

CONCURRENT WORKSHOPS 6 - Sponsored Workshop

varvis logo

The varvis® genomics platform is a complete solution for clinical diagnostics, supporting NGS raw data processing, genomics data management, and variant interpretation. Automated CNV and SNV analysis are clinically validated and completely integrated into the NGS workflow.

To Be Announced

Duration: 1.5 hours
11:00 AM - 11:45 AM
Plato

WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor

CONCURRENT WORKSHOPS 6

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

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 45 mins
12:30 PM - 1:30 PM
The Block Restaurant

Lunch Break

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

WORKSHOP: Ensembl Genome Browser - ADVANCED

CONCURRENT WORKSHOPS 7

In-person attendees who have a good working knowledge of Ensembl should attend this workshop. If you have no or only basic knowledge, please choose the "Basic" option on Thurs. 22nd Sept.

To be Announced Ensembl

Ensembl Outreach Officer TBA.

Duration: 1.5 hours
1:30 PM - 3:00 PM
Rouso

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

CONCURRENT WORKSHOPS 7

To Be Announced

Duration: 1.5 hours
1:30 PM - 2:15 PM
Virtual

WORKSHOP: Variant Annotation Integrator (track sets) - VIRTUAL

CONCURRENT WORKSHOPS 7

 

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
3:00 PM - 3:30 PM
The Block Restaurant

Coffee Break

Duration: 30 mins
3:30 PM - 5:00 PM
Rouso

Workshop: NGS in diagnostics: where things can go wrong

CONCURRENT WORKSHOPS 8

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
3:30 PM - 5:00 PM
Virtual

WORKSHOP: ACMG grading - VIRTUAL

CONCURRENT WORKSHOPS 8

 

Andreas Laner

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

Duration: 1.5 hours
3:30 PM - 5:00 PM
Plato

WORKSHOP: UCSC Genome Browser - ADVANCED

CONCURRENT WORKSHOPS 8

Advanced workshop for those already knowledgable on the use of this browser. If you are unfamiliar with this browser or are not very confident please choose the other "Basic" option for this workshop on Thurs. 22nd Sept.

Robert Kuhn

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

Duration: 1.5 hours
5:00 PM - 5:15 PM

Refresh Break

Duration: 15 mins
5:15 PM - 5:45 PM
UNESCO

Title to be announced

To Be Announced

Duration: 30 mins
5:45 PM - 6:30 PM
UNESCO

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: 45 mins