
Program
Participants are required to bring a laptop with them to the course
Sunday 28th September:
- Registration Opens 8.00
- Course Begins 8.30
- Networking Reception 19.30 (time to be confirmed)
Monday 29th September:
- Course continues 8.30 - 18.00
Tuesday 30th September:
- Course continues 8.30 - 18.00
Wednesday 1st October:
- Course continues 8.30 - 13.00
- Course Ends 17.00 - 17.30
Scroll down to view draft program!
Topics
Exome diagnostics where technology fails
- Clinical reasons
- Technical reasons
- Exceptions - thinking out of the box
- Options beyond the exome
- Phenotype description - Human Phenotype Ontology
Genome Browsers
- Ensembl (workshop)
- Ensembl - variant annotation with VEP
- UCSC (workshop)
- UCSC recommended track sets (SNV & CNV)
- IGV - short read, long read, RNA
Databases
- DNA diagnostics = sharing data
- HGVS nomenclature (workshop)
- Gene variant databases (LSDBs)
- gnomAD
RNA and other functional/prediction tests
- RNA splicing (theory)
- Mechanisms of RNA disease
- Splice prediction tools
- Interpreting RNA data (practice)
Variant classification / priorization
- ACMG variant classification (theory)
- Online tools - MobiDetails (workshop)
- SNV variant classification basic (workshop)
- SNV variant classification advanced (workshop)
- CNV variant classification (workshop)
Draft Program - subject to changes & rearranging!
Registration
Please do not arrive at the last minute or you may miss the beginning of the session!
Welcome & Introduction
Dr. Andreas Laner
Chair

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Variants in the genome: types and disease pathomechanisms

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More
Variant Classification - ACMG Recommendations SNV

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Coffee Break
Mobidetails - Online DNA splice variant interpretation
WORKSHOP

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
Lunch Break
To be Announced
Coffee Break
Gene variant databases (LSDBs) / DNA diagnostics = sharing data

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

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
UCSC Genome Browser: The Recommended Track Sets

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Refresh Break
Roundtable Discussions 1: Interactive Problem-Solving
Engage in dynamic, small-group discussions on key topics from Day 1. Choose a table that aligns with your interests, collaborate with peers to explore challenges and solutions, and gain fresh perspectives. After 30 minutes, switch to another table to dive into a new topic. This is your chance to connect, share insights, and leave with actionable takeaways!
Welcome Reception
Human Phenotype Ontology (HPO) and gene disease association (GenCC)
WORKSHOP

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More
Potential consequences on the RNA Level (theory); mechansims of RNA disease

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
Coffee Break
SNV variant classification workshop - ADVANCED
WORKSHOP
Attendees must choose one SNV Variant Classification Workshop either "Basic" or "Advanced" during registration.

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
SNV variant classification workshop - BASIC
WORKSHOP
Attendees must choose one SNV Variant Classification Workshop either "Basic" or "Advanced" during registration.

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More
Lunch Break
RNA analysis: how to interpret RNA data to expand the Dx yield

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More
Coffee Break
UCSC Genome Browser
WORKSHOP

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
Refresh Break
Roundtable Discussions 2: Interactive Problem-Solving
Engage in dynamic, small-group discussions on key topics from Day 2. Choose a table that aligns with your interests, collaborate with peers to explore challenges and solutions, and gain fresh perspectives. After 30 minutes, switch to another table to dive into a new topic. This is your chance to connect, share insights, and leave with actionable takeaways!
Variant Classification - ACMG Recommendations CNV

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More
Visualizing Genomics Data with Integrated Genomics Viewer (IGV)
WORKSHOP

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Coffee Break
CNV variant classification
WORKSHOP

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More
Lunch Break
The Ensembl Genome Browser
WORKSHOP

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

Coffee Break
Describing variants with the HGVS Nomenclature
WORKSHOP

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Roundtable Discussions 3: Interactive Problem-Solving
Engage in dynamic, small-group discussions on key topics from Day 3. Choose a table that aligns with your interests, collaborate with peers to explore challenges and solutions, and gain fresh perspectives. After 30 minutes, switch to another table to dive into a new topic. This is your chance to connect, share insights, and leave with actionable takeaways!
"What can go wrong" - where the technology fails (lab + bioIT)
WORKSHOP

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Coffee Break
SNV Exceptional Cases: Bring Your Case
WORKSHOP
Have a challenging SNV case? Bring it to the table! This interactive session is dedicated to discussing exceptional and complex cases as a group. Collaborate with peers, share insights, and explore strategies to tackle difficult interpretations. Whether you have a case to present or want to contribute your expertise, this is a great opportunity for collective problem-solving and learning.
Lunch Break
"Thinking out of the box" - Clinical reasons, beyond the exome, etc
WORKSHOP

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Coffee Break
Roundtable Discussions 4: Interactive Problem-Solving
Engage in dynamic, small-group discussions on key topics from Day 4. Choose a table that aligns with your interests, collaborate with peers to explore challenges and solutions, and gain fresh perspectives. After 30 minutes, switch to another table to dive into a new topic. This is your chance to connect, share insights, and leave with actionable takeaways!
To be Announced
Using artificial intelligence for variant interpretation past, present and future

Summary & Close

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