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Program

All In-person participants are required to bring a laptop with them to the course

Monday 14th October:

Registration Opens 8.00
Course Begins 8.30
Networking Reception 19.15

 

Tuesday 15th October:

Course continues 8.30 - 19.20


Wednesday 16th October:

Course continues 8.30 - 18.00
Course Ends 18.00 

! Virtual Participants

  • All plenary sessions will be live-streamed according to the time listed. The times are shown in CEST, UTC+2 ie Palermo local time. 
  • Stream A Workshops will be in-person only.  
  • Stream V Workshops will be virtual only.
  • Everything will be recorded and available in the ePortal in case you miss anything.

Time shown in CEST - UTC+2

Program

Stream A = in-person only. Stream V = virtual only.

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
In-person & Virtual

Welcome & Introduction

Dr. Andreas Laner

Chair

Duration: 5 mins
8:35 AM - 9:15 AM
In-person & Virtual

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 - 9:45 AM
In-person & Virtual

Variant Classification - ACMG Recommendations SNV

Andreas Laner

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

Duration: 30 mins
9:45 AM - 10:15 AM
In-person & Virtual

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: 30 mins
10:15 AM - 10:45 AM

Coffee Break

Duration: 30 mins
10:45 AM - 11:15 AM
In-person & Virtual

Variant Classification - CNV Recommendations

Jorge Diogo Da Silva

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

Duration: 30 mins
11:15 AM - 11:45 AM
In-person & Virtual

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
11:45 AM - 12:15 PM
In-person & Virtual

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
12:15 PM - 12:45 PM
In-person & Virtual

The Ensembl Genome Browser and its possibilities

Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 30 mins
12:45 PM - 1:45 PM

Lunch Break

Duration: 1 hour
1:45 PM - 2:30 PM
In-person & Virtual

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
2:30 PM - 3:15 PM
In-person & Virtual

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: 45 mins
3:15 PM - 3:40 PM

Coffee Break

Duration: 25 mins
3:40 PM - 5:10 PM
Virtual only

STREAM V: Qiagen - Automate and accelerate germline variant interpretation: An interactive, hands-on workshop

SPONSORED WORKSHOP

For many labs, interpreting and reporting genetic variants is a complex and time-consuming process, requiring multiple databases and software applications to detect, filter and classify variants. However, one software solution can significantly improve both the speed and accuracy of your tertiary analysis workflows.

Join us for a hands-on workshop to learn how your lab can use QIAGEN Clinical Insight (QCI) Interpret to prioritize, filter, classify, and report germline variants in less time and with greater confidence. Through real-world use cases and practical exercises, you will see how QCI Interpret can help automate the analysis and interpretation of multiple sample types. Learn how to use QCI Interpret to generate a list of clinically relevant variants from whole-exome sequencing (WES) and targeted panels and explore how to associate variants with up-to-date, expert-certified evidence. Suitable for geneticists, bioinformaticians, variant scientists, and lab technicians, this interactive workshop will show you how to modernize germline variant analysis and interpretation in a scalable, high-throughput environment. Please bring a laptop, as access to QCI Interpret will be provided. You are welcome to use your own VCF files to demo the software.

Cristian Cosentino

Associate Staff Clinical Application Scientist - QIAGEN Cristian is a clinical field... More

Renato Salazar

Senior Clinical Application Scientist - QIAGEN Renato is a clinical field application scientist... More

Duration: 1.5 hours
3:40 PM - 5:10 PM
In-person only

STREAM A: Ensembl - Annotating Variants with VEP

WORKSHOP

 
Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 1.5 hours
5:10 PM - 5:30 PM

Break

Duration: 20 mins
5:30 PM - 7:00 PM
Virtual only

STREAM V: 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
5:30 PM - 7:00 PM
In-person only

STREAM A: SNV variant classification workshop - Basic

WORKSHOP

 

Andreas Laner

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

Duration: 1.5 hours
7:00 PM - 8:00 PM
NH Palermo

Welcome Reception/Drinks

Duration: 1 hour
8:30 AM - 9:15 AM
In-person & Virtual

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

Sara GutiƩrrez-Enrƭquez

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
9:15 AM - 10:00 AM
In-person & Virtual

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

Sara GutiƩrrez-Enrƭquez

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

Duration: 45 mins
10:00 AM - 10:30 AM
In-person & Virtual

Splicing: Variant Effect Interpretation and Classification

WORKSHOP

Sara GutiƩrrez-Enrƭquez

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
10:30 AM - 11:00 AM

Coffee Break

Duration: 30 mins
11:00 AM - 11:30 AM
In-person & Virtual

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
11:30 AM - 1:00 PM
In-person & Virtual

"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
1:00 PM - 2:00 PM

Lunch Break

Duration: 1 hour
2:00 PM - 3:30 PM
In-person only

STREAM A: Next Generation Sequencing (NGS) data analysis propelled by the varvisĀ® software

SPONSORED WORKSHOP

How is real-world NGS data analysis performed? How can I put all the theoretical knowledge I have into practice? Is there any software or analysis tool that can guide users in the right direction without being too controlling? In this engaging workshop, we will address these questions, and so will you:

• Discover how the varvis® software simplifies NGS data analysis with just a few clicks.

• Gain valuable insights into navigating the data analysis workflow from an experienced user.

• Participate in a hands-on training session, solving clinical cases with the varvis® software.

In addition to focusing on variant filtering and providing you with a solid foundation for analysing NGS data, this workshop also serves as preparation for the upcoming "SNV Variant Classification Workshop - Advanced" in which you will use the varvis® software as well. Don't miss this opportunity to experience the complete varvis® analysis workflow!

Program and speakers:

 

Introduction to the varvis® software- A simplified, yet power-packed NGS analysis tool

Dr. Ximena Escalera-Fanjul, Limbus Medical Technologies GmbH


NGS data analysis in uncovering diagnoses- a presentation of clinical cases

Dr. Guido Neidhardt, Synlab Holding Germany GmbH

 

Hands-on whole exome analysis training

Dr. Yvonne Kasmann, Limbus Medical Technologies GmbH

 

About varvis®

varvis® is the first software certified end-to-end as a Class C medical device under IVDR. The cloud-based genomics platform is tailored to support the entire NGS workflow, from raw data processing to genomic data management and variant interpretation. Automated CNV and SNV analysis are fully integrated into the NGS workflow and clinically validated for panels of all sizes including WGS. Our services include first-class support, training, automated quality control and validation compliant with IVDR. The varvis® software is designed to accelerate the diagnosis of patients.

Contact: info@varvis.com

Website: www.varvis.com

 

Yvonne Kasmann

Dr. Yvonne Kasmann holds a diploma in Physics and a PhD in Systems Biology where her research... More

Guido Neidhardt

Currently a Human Geneticist/Scientist at Synlab Holding Germany GmbH (ZHMA) in Mannheim, has an... More

Ximena Escalera-Fanjul

Dr. Ximena Escalera is currently a Business Developer at Limbus Medical Technologies, where she... More

Duration: 1.5 hours
2:00 PM - 3:30 PM
Virtual only

STREAM V: SNV variant classification workshop - Basic

WORKSHOP

 

Andreas Laner

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

Duration: 1.5 hours
3:30 PM - 4:00 PM

Coffee Break

Duration: 30 mins
4:00 PM - 5:30 PM
In-person only

STREAM A: Qiagen - Automate and accelerate germline variant interpretation: An interactive, hands-on workshop

SPONSORED WORKSHOP

For many labs, interpreting and reporting genetic variants is a complex and time-consuming process, requiring multiple databases and software applications to detect, filter and classify variants. However, one software solution can significantly improve both the speed and accuracy of your tertiary analysis workflows.

Join us for a hands-on workshop to learn how your lab can use QIAGEN Clinical Insight (QCI) Interpret to prioritize, filter, classify, and report germline variants in less time and with greater confidence. Through real-world use cases and practical exercises, you will see how QCI Interpret can help automate the analysis and interpretation of multiple sample types. Learn how to use QCI Interpret to generate a list of clinically relevant variants from whole-exome sequencing (WES) and targeted panels and explore how to associate variants with up-to-date, expert-certified evidence. Suitable for geneticists, bioinformaticians, variant scientists, and lab technicians, this interactive workshop will show you how to modernize germline variant analysis and interpretation in a scalable, high-throughput environment. Please bring a laptop, as access to QCI Interpret will be provided. You are welcome to use your own VCF files to demo the software.

Cristian Cosentino

Associate Staff Clinical Application Scientist - QIAGEN Cristian is a clinical field... More

Renato Salazar

Senior Clinical Application Scientist - QIAGEN Renato is a clinical field application scientist... More

Duration: 1.5 hours
4:00 PM - 5:30 PM
Virtual only

STREAM V: UCSC Genome Browser Workshop

WORKSHOP

Robert Kuhn

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

Duration: 1.5 hours
5:30 PM - 5:50 PM

Break

Duration: 20 mins
5:50 PM - 7:20 PM
Virtual only

STREAM V: Ensembl: Annotating Variants with VEP

WORKSHOP

Louisse Mirabueno

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More

Duration: 1.5 hours
5:50 PM - 7:20 PM
In-person only

STREAM A: 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
8:30 AM - 9:30 AM
In-person & Virtual

CNV variant classification

WORKSHOP

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 - 10:00 AM
In-person & Virtual

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: 30 mins
10:00 AM - 10:30 AM
In-person & Virtual

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

Coffee Break

Duration: 30 mins
11:00 AM - 12:30 PM
In-person only

STREAM A: SNV variant classification workshop - Advanced

WORKSHOP

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 only

STREAM V: Next Generation Sequencing (NGS) data analysis propelled by the varvisĀ® software

SPONSORED WORKSHOP

How is real-world NGS data analysis performed? How can I put all the theoretical knowledge I have into practice? Is there any software or analysis tool that can guide users in the right direction without being too controlling? In this engaging workshop, we will address these questions, and so will you:

• Discover how the varvis® software simplifies NGS data analysis with just a few clicks.

• Gain valuable insights into navigating the data analysis workflow from an experienced user.

• Participate in a hands-on training session, solving clinical cases with the varvis® software.

In addition to focusing on variant filtering and providing you with a solid foundation for analysing NGS data, this workshop also serves as preparation for the upcoming "SNV Variant Classification Workshop - Advanced" in which you will use the varvis® software as well. Don't miss this opportunity to experience the complete varvis® analysis workflow!

Program and speakers:

Introduction to the varvis® software- A simplified, yet power-packed NGS analysis tool

Dr. Ximena Escalera-Fanjul, Limbus Medical Technologies GmbH


NGS data analysis in uncovering diagnoses- a presentation of clinical cases

Dr. Guido Neidhardt, Synlab Holding Germany GmbH

 

Hands-on whole exome analysis training

Dr. Yvonne Kasmann, Limbus Medical Technologies GmbH

 

About varvis®

varvis® is the first software certified end-to-end as a Class C medical device under IVDR. The cloud-based genomics platform is tailored to support the entire NGS workflow, from raw data processing to genomic data management and variant interpretation. Automated CNV and SNV analysis are fully integrated into the NGS workflow and clinically validated for panels of all sizes including WGS. Our services include first-class support, training, automated quality control and validation compliant with IVDR. The varvis® software is designed to accelerate the diagnosis of patients.

Contact: info@varvis.com

Website: www.varvis.com

Yvonne Kasmann

Dr. Yvonne Kasmann holds a diploma in Physics and a PhD in Systems Biology where her research... More

Guido Neidhardt

Currently a Human Geneticist/Scientist at Synlab Holding Germany GmbH (ZHMA) in Mannheim, has an... More

Ximena Escalera-Fanjul

Dr. Ximena Escalera is currently a Business Developer at Limbus Medical Technologies, where she... More

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

Lunch Break

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

STREAM V: SNV variant classification workshop - Advanced

WORKSHOP

Andreas Laner

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

Duration: 1.5 hours
1:30 PM - 3:00 PM
In-person only

STREAM A: 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
3:00 PM - 3:30 PM

Coffee Break

Duration: 30 mins
3:30 PM - 5:00 PM
In-person & Virtual

"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
5:00 PM - 5:45 PM
In-person & Virtual

Using artificial intelligence for variant interpretation past, present and future

Susanna Zucca

CSO & co-founder at enGenome

Duration: 45 mins
5:45 PM - 6:00 PM
In-person & Virtual

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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