
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
Registration
In-Person attendees arrive, register and collect name badge.
Welcome & Introduction
Dr. Andreas Laner
Chair
Variants in the Genome: position and possible consequences

Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens... More
NGS: what method to apply (gene panel, WES or WGS) and where technology fails

Institute of Medical Genetics Ljublijana, Slovenia
Coffee Break
Gene variant databases & sharing information

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
EMQN - genomics quality assurance
virtual presentation
Bio TBA
Lunch Break
HGVS Nomenclature - describing variants

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
The Ensembl Browser and its possibilities
Ensembl Outreach Officer TBA.
The UCSC Browser and its possibilities

Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Coffee Break
Variant Classification - ACMG Recommendations

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Refresh Break
WORKSHOP: HGVS Nomenclature - describing variants
CONCURRENT WORKSHOPS 1

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
WORKSHOP: ACMG grading - BASIC
CONCURRENT WORKSHOPS 1
For in-person attendees with little or no knowledge of ACMG grading.

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
WORKSHOP: UCSC Genome Browser - VIRTUAL
CONCURRENT WORKSHOPS 1

Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)

Potential consequences on the RNA Level (theory)

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Variants in the mitochondrial genome

Coffee Break
WORKSHOP: HGVS Nomenclature - describing variants
CONCURRENT WORKSHOPS 2

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
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, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
WORKSHOP: Ensembl Genome Browser - VIRTUAL
CONCURRENT WORKSHOPS 2
Ensembl Outreach Officer TBA.
Lunch Break
Workshop: NGS in diagnostics: where things can go wrong
CONCURRENT WORKSHOPS 3

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

Anna is head of the Development and Technology Transfer department at the Munich Medical... More
WORKSHOP: UCSC Genome Browser - BASIC
CONCURRENT WORKSHOPS 3
BASIC workshop for UCSC Genome Browser for attendees with little or no working knowledge

Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro) - VIRTUAL
CONCURRENT WORKSHOPS 3

Coffee Break
WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor
CONCURRENT WORKSHOPS 4

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

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

WORKSHOP: HGVS Nomenclature - describing variants - VIRTUAL
CONCURRENT WORKSHOPS 4

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Refresh Break
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.
Ensembl Outreach Officer TBA.
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
CONCURRENT WORKSHOPS 5

Workshop: NGS in diagnostics: where things can go wrong - VIRTUAL
CONCURRENT WORKSHOPS 5

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

Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Conference Dinner
Location to be announced
RNA analysis: expanding the Dx yield (practice)

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

Epigenetics - beyond Mendel

Coffee Break
WORKSHOP: varvis genomics platform
CONCURRENT WORKSHOPS 6 - 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.

WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor
CONCURRENT WORKSHOPS 6

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

Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Ensembl Outreach Officer TBA.
Lunch Break
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.
Ensembl Outreach Officer TBA.
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
CONCURRENT WORKSHOPS 7

WORKSHOP: Variant Annotation Integrator (track sets) - VIRTUAL
CONCURRENT WORKSHOPS 7

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

Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Coffee Break
Workshop: NGS in diagnostics: where things can go wrong
CONCURRENT WORKSHOPS 8

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

Anna is head of the Development and Technology Transfer department at the Munich Medical... More
WORKSHOP: ACMG grading - VIRTUAL
CONCURRENT WORKSHOPS 8

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
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 is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Refresh Break
Title to be announced
