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.
Registration
Please do not arrive at the last minute or you may miss the beginning of the session!
Welcome & Introduction
Dr. Andreas Laner
Chair
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
Variant Classification - ACMG Recommendations CNV
Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More
Coffee Break
Variant Classification - CNV Recommendations
Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University... More
UCSC Genome Browser: The Recommended Track Sets
Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
The Ensembl Genome Browser and its possibilities
Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More
Lunch Break
Describing variants with the HGVS Nomenclature
WORKSHOP
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Human Phenotype Ontology (HPO) and gene disease association (GenCC)
WORKSHOP
Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular... More
Coffee Break
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.
Associate Staff Clinical Application Scientist - QIAGEN Cristian is a clinical field... More
Senior Clinical Application Scientist - QIAGEN Renato is a clinical field application scientist... More
STREAM A: Ensembl - Annotating Variants with VEP
WORKSHOP
Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More
Break
STREAM V: Mobidetails - Online DNA splice variant interpretation
WORKSHOP
Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
STREAM A: SNV variant classification workshop - Basic
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Welcome Reception/Drinks
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
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
The UCSC Genome Browser and its possibilities
Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
"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
Lunch Break
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
Dr. Yvonne Kasmann holds a diploma in Physics and a PhD in Systems Biology where her research... More
Currently a Human Geneticist/Scientist at Synlab Holding Germany GmbH (ZHMA) in Mannheim, has an... More
Dr. Ximena Escalera is currently a Business Developer at Limbus Medical Technologies, where she... More
STREAM V: SNV variant classification workshop - Basic
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Coffee Break
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.
Associate Staff Clinical Application Scientist - QIAGEN Cristian is a clinical field... More
Senior Clinical Application Scientist - QIAGEN Renato is a clinical field application scientist... More
STREAM V: UCSC Genome Browser Workshop
WORKSHOP
Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
Break
STREAM V: Ensembl: Annotating Variants with VEP
WORKSHOP
Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin... More
STREAM A: Mobidetails - Online DNA splice variant interpretation
WORKSHOP
Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm... More
CNV variant classification
WORKSHOP
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
Gene variant databases (LSDBs) / DNA diagnostics = sharing data
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Coffee Break
STREAM A: SNV variant classification workshop - Advanced
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
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
Dr. Yvonne Kasmann holds a diploma in Physics and a PhD in Systems Biology where her research... More
Currently a Human Geneticist/Scientist at Synlab Holding Germany GmbH (ZHMA) in Mannheim, has an... More
Dr. Ximena Escalera is currently a Business Developer at Limbus Medical Technologies, where she... More
Lunch Break
STREAM V: SNV variant classification workshop - Advanced
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
STREAM A: UCSC Genome Browser
WORKSHOP
Robert Kuhn received his PhD in biochemistry and molecular biology at the University of... More
Coffee 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
Using artificial intelligence for variant interpretation past, present and future
CSO & co-founder at enGenome
Summary & Close
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More