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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!

8:00 AM - 8:30 AM

Registration

Please do not arrive at the last minute or you may miss the beginning of the session!

Duration: 30 mins
8:30 AM - 8:35 AM

Welcome & Introduction

Dr. Andreas Laner

Chair

Andreas Laner

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

Duration: 5 mins
8:35 AM - 9:15 AM

Variants in the genome: types and disease pathomechanisms

Nikos Marinakis

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More

Duration: 40 mins
9:15 AM - 10:00 AM

Variant Classification - ACMG Recommendations SNV

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

gnomAD

DEMONSTRATION

Andreas Laner

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

Nikos Marinakis

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More

Duration: 30 mins
10:30 AM - 11:00 AM

Coffee Break

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

Mobidetails - Online DNA splice variant interpretation

WORKSHOP

 

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

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

Lunch Break

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

To be Announced

Duration: 1.5 hours
3:00 PM - 3:20 PM

Coffee Break

Duration: 20 mins
3:20 PM - 4:05 PM

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: 45 mins
4:05 PM - 4:35 PM

The UCSC Genome Browser and its possibilities

Robert Kuhn

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More

Duration: 30 mins
4:35 PM - 5:05 PM

UCSC Genome Browser: The Recommended Track Sets

Anna Benet-Pages

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

Duration: 30 mins
5:05 PM - 5:15 PM

Refresh Break

Duration: 10 mins
5:15 PM - 6:15 PM

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!

Duration: 1 hour
6:30 PM - 8:00 PM

Welcome Reception

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

Human Phenotype Ontology (HPO) and gene disease association (GenCC)

WORKSHOP

Nikos Marinakis

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More

Duration: 1 hour
9:30 AM - 10:15 AM

Potential consequences on the RNA Level (theory); mechansims of RNA disease

Sara Gutiérrez-Enríquez

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

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

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

Coffee Break

Duration: 30 mins
10:45 AM - 12:45 PM

SNV variant classification workshop - ADVANCED

WORKSHOP

Attendees must choose one SNV Variant Classification Workshop either "Basic" or "Advanced" during registration.

Andreas Laner

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

Duration: 2 hours
10:45 AM - 12:45 PM

SNV variant classification workshop - BASIC

WORKSHOP

Attendees must choose one SNV Variant Classification Workshop either "Basic" or "Advanced" during registration.

Nikos Marinakis

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More

Duration: 2 hours
12:45 PM - 1:45 PM

Lunch Break

Duration: 1 hour
1:45 PM - 2:30 PM

RNA analysis: how to interpret RNA data to expand the Dx yield

Sara Gutiérrez-Enríquez

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

Duration: 45 mins
2:30 PM - 3:00 PM

Splicing: Variant Effect Interpretation and Classification

WORKSHOP

Sara Gutiérrez-Enríquez

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

David Baux

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More

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

Coffee Break

Duration: 20 mins
3:20 PM - 4:50 PM

UCSC Genome Browser

WORKSHOP

Robert Kuhn

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More

Duration: 1.5 hours
4:50 PM - 5:00 PM

Refresh Break

Duration: 10 mins
5:00 PM - 6:00 PM

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!

 

Duration: 1 hour
8:30 AM - 9:30 AM

Variant Classification - ACMG Recommendations CNV

Jorge Diogo Da Silva

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More

Duration: 1 hour
9:30 AM - 10:30 AM

Visualizing Genomics Data with Integrated Genomics Viewer (IGV)

WORKSHOP

Anna Benet-Pages

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

Duration: 1 hour
10:30 AM - 11:00 AM

Coffee Break

Duration: 30 mins
11:00 AM - 1:00 PM

CNV variant classification

WORKSHOP

Jorge Diogo Da Silva

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More

Duration: 2 hours
1:00 PM - 2:00 PM

Lunch Break

Duration: 1 hour
2:00 PM - 3:30 PM

The Ensembl Genome Browser

WORKSHOP

Aleena Mushtaq

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

To Be Announced

Duration: 1.5 hours
3:30 PM - 3:50 PM

Coffee Break

Duration: 20 mins
3:50 PM - 4:35 PM

Describing variants with the HGVS Nomenclature

WORKSHOP

Johan T. den Dunnen

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

Duration: 45 mins
4:40 PM - 5:40 PM

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!

Duration: 1 hour
8:30 AM - 10:00 AM

"What can go wrong" - where the technology fails (lab + bioIT)

WORKSHOP

Anna Benet-Pages

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

Johan T. den Dunnen

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

Duration: 1.5 hours
10:00 AM - 10:30 AM

Coffee Break

Duration: 30 mins
10:30 AM - 12:00 PM

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.

 

Duration: 1.5 hours
12:00 PM - 12:45 PM

Lunch Break

Duration: 45 mins
12:45 PM - 2:15 PM

"Thinking out of the box" - Clinical reasons, beyond the exome, etc

WORKSHOP

Anna Benet-Pages

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

Johan T. den Dunnen

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

Duration: 1.5 hours
2:15 PM - 2:35 PM

Coffee Break

Duration: 20 mins
2:35 PM - 3:35 PM

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!

Duration: 1 hour
3:35 PM - 4:00 PM

To be Announced

Duration: 25 mins
4:00 PM - 4:45 PM

Using artificial intelligence for variant interpretation past, present and future

To Be Announced

Duration: 45 mins
4:45 PM - 5:00 PM

Summary & Close

Andreas Laner

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

Duration: 15 mins

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