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Program

The full program is now available to be viewed on-demand!  Registration includes access to all recorded sessions inside the platform including session chat until 31 March 2022.

If you register before 8th October 2021 you will have the opportunity to ask quesions inside the session chats that the speakers may go back and answer you directly in the chat.

Final Program - shown in Central European Summer Time UTC + 2

NOTE 13 Sep. some small rearranging of schedule was made!

6:00 AM - 7:00 AM

Human Phenotype Ontology (HPO) - describing phenotypes. Lecture & WORKSHOP

Video available on-demand.

Andreas Laner

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

Duration: 1 hour
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
9:50 AM - 10:20 AM

Break

Duration: 30 mins
10:20 AM - 11:50 AM

HGVS Nomenclature - describing variants. Lecture & WORKSHOP

Johan T. den Dunnen

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

Duration: 1.5 hours
11:50 AM - 12:40 PM

Break

Duration: 50 mins
12:40 PM - 1:50 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: 1.17 hours
1:50 PM - 2:30 PM

CNV calling/ analysis: applications and challenges

Steven Laurie

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

Duration: 40 mins
2:30 PM - 3:05 PM

Break

Duration: 35 mins
3:05 PM - 3:45 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
3:45 PM - 4:30 PM

Testing your own DNA

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
8:10 AM - 9:40 AM

Variant Classification - ACMG Recommendations. Lecture & WORKSHOP

Andreas Laner

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

Duration: 1.5 hours
9:40 AM - 10:05 AM

Break

Duration: 25 mins
10:05 AM - 10:45 AM

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

Gijs Santen

A special interest in dysmorphology, in particular Coffin-Siris syndrome, and prenatal genetic... More

Duration: 40 mins
10:45 AM - 11:15 AM

Annotating Variants: VEP

Aleena Mushtaq

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

Duration: 30 mins
11:15 AM - 11:45 AM

Break

Duration: 30 mins
11:45 AM - 1:15 PM

Genome Browsers - Ensembl. Lecture & WORKSHOP

Aleena Mushtaq

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

Duration: 1.5 hours
1:15 PM - 2:05 PM

Break

Duration: 50 mins
2:05 PM - 2:45 PM

The MANE Project

Fiona Cunningham

Dr Fiona Cunningham is interested in problems where building large-scale systems for genomic... More

Terence Murphy

Dr. Terence Murphy is the business owner for the RefSeq offering at the NCBI, and is the team... More

Duration: 40 mins
2:45 PM - 3:30 PM

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

Break

Duration: 30 mins
4:05 PM - 5:30 PM

Genome Browsers - UCSC. Lecture & WORKSHOP

This session is intended for people inside European timezones.  It will be repeated early on Thur. 23rd. Sept.  If you are outside Europe you should attend that session!

Robert Kuhn

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

Duration: 1.42 hours
3:00 AM - 4:30 AM

Genome Browsers - UCSC. Lecture & WORKSHOP

This session is intended for people outside of Europe timezones.  It is a repeat of the last session on Wed. 22nd Sept.

Robert Kuhn

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

Duration: 1.5 hours
7:40 AM - 8:20 AM

UCSC recommended track sets

Robert Kuhn

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

Duration: 40 mins
8:20 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: 40 mins
9:00 AM - 9:15 AM

Break

Duration: 15 mins
9:15 AM - 9:55 AM

RNA analysis: expanding the Dx yield (practice)

Antonio Vitobello

A group leader and principal investigator at the University Hospital of Dijon and the University... More

Duration: 40 mins
9:55 AM - 10:35 AM

Unstructured Session

One or two Submissions from attendees will be discussed in a Panel Discussion.  If you have a question or topic you think would benefit from such a discussion please submit your proposal by 15.00 CEST Tues. 21st Sept.  SUBMIT YOUR PROPOSAL HERE.

Duration: 40 mins
10:35 AM - 11:05 AM

Break

Duration: 30 mins
11:05 AM - 12:35 PM

NGS in diagnostics: where things can go wrong. WORKSHOP

Anna Benet-Pages

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

Duration: 1.5 hours
12:35 PM - 1:05 PM

Break

Duration: 30 mins
1:05 PM - 2:30 PM

Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro). Lecture & 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: 1.42 hours
2:30 PM - 3:05 PM

Break

Duration: 35 mins
3:05 PM - 3:45 PM

Future Developments

Periklis Makrythanasis

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

Duration: 40 mins
3:45 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: 45 mins
4:30 PM - 5:00 PM

E- Poster Presentations

Short videos and posters/slides.   Available On - Demand to view anytime:

1.   MobiDetails: online DNA variant interpretation

David Baux

2.   Benchmarking of bioinformatics tools for causative variant prioritization from whole-exome sequencing patient data

Eva Tosco-Herrera

3.   HADA: an interactive resource for automated annotation of genetic variants in hereditary angioedema studies

Alejandro Mendoza-Alvarez

4.   Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data

Griet De Clercq   

5.   Estimating true-positive rates of CNV detection by WES read depth-based analysis in 434 assays

Fatima Lopez

6.   Genomic analysis frameworks and applications: a critical review

Adrian Calzadilla-Gonzalez

7.   Girl with three homozygous variants in APOA5 gene – highly increased risk for severe hypertriglyceridemia (to be confirmed)

Marija Mijovic

Duration: 30 mins