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ORGANIZED BY
CONTACT
ibeccommunications@ibecbarcelona.eu
Mafalda Dias (CRG)
Jonathan Fraser (CRG)
Benedetta Bolognesi (IBEC)
Lara Muffley (University of Washington)
Ben Lehner (CRG)
Mutational scanning technologies and Multiplex Assays of Variant Effects (MAVEs) are key to variant interpretation and transform our understanding of the human genome.
At the 8th annual meeting of the ‘Mutational Scanning Symposium’, experts in the fields of functional genomics, protein science, precision medicine, variant interpretation, and computational genetics came from around the world to meet, present their work, discuss new methods and provide insights on the future of this science.
The conference will be a two and a half days hybrid meeting with onsite or virtual attendance. Discussions will center on a variety of exciting topics, including variant effect prediction, saturation mutagenesis, sequence/structure/function relationships and protein engineering, along with conversations about emerging technologies for functional assays and biophysical modelling.
#VariantEffect25
Variant interpretation
Computational genetics
Protein engineering
Biophysical modelling
Functional genomics
Saturation and combinatorial mutagenesis
EARLY BIRD RATE
Payment before/on 1st March 2025
| Regular | 100€ |
LATE RATE
Payment after 1st March 2025
| Regular | 200€ |
VAT included
The registration fee covers attendance to all sessions, lunches and coffee/tea breaks during the conference, conference dinner and conference materials
Conference cancellation policy
ONLINE RATE
| Regular | 50€ |
Travel awards will be given to a limited number. The value will depend on the conditions. Minimum €500.
You can apply through the registration form. The acceptance notifications will be sent on March 10th.
For any queries about the conference, including opportunities for collaborations or sponsorship, please contact with: ibeccommunications@ibecbarcelona.eu
Or fill in the contact form below and we will be in contact with you shortly:
SPEAKERS
TRAINING WORKSHOPS
In recent years there has been an explosion of tools for the analysis, modelling and prediction of variant effects. From the users perspective, it is not always clear what is the right tool for the job at hand, or how to best evaluate the performance at a desired downstream task. In this hands-on workshop, participants will learn about state-of-the-art models for variant interpretation and how to use them appropriately for their needs — starting from experimental data, to in-silico predictions, and to their consequences for protein design. To ensure the interactive nature of the workshop, numbers of participants will be limited.
Bridging the gap between MAVE data sets and their clinical applications is crucial for improving gene variant classification, particularly for VUS. MAVEs provide high-throughput functional data that can help elucidate the biological impact of variants, offering a powerful tool to help resolve the growing number of VUS. Although many MAVEs have been performed on disease-related genes, to translate this data into clinically actionable insights, the data needs to be standardized into a format that is conducive to clinical use. The goal of this workshop is to guide users how to release MAVE data in a format that is immediately useful to clinicians, enhancing the utility of MAVEs in clinical genomics and contributing to more accurate and reliable gene variant classifications. First, we will discuss ACMG and ClinGen guidance for translating functional data into evidence for variant classification. This will help the user understand how their data is used in a clinical laboratory and ensure that their data aligns with this framework. Next, we will discuss FAIR data sharing principles and minimum information standards that will help you release a more comprehensive and transparent dataset. Finally, we will demonstrate how to take advantage of resources for sharing functional data like MaveDB and ClinVar to help get your data directly to clinicians
Registration for the two workshops can be done through the registration form. The places are limited.
| 15:00 – 18:30 | Workshop 1: How to choose a model for variant interpretation and protein design |
| 09:00 – 09:30 | Registration |
| 9:30 – 11:00 | Opening and start of the sessions |
| 11:00 – 11:20 | Coffee Break |
| 11:20 – 12:30 | Sessions |
| 12:30 – 14:30 | Lunch and Poster session |
| 14:30 – 15:40 | Sessions |
| 15:40 – 16:20 | Coffee Break |
| 16:20 – 17:20 | Sessions |
| 17:30 | End of the first day |
| 09:30 – 11:00 | Start of the sessions |
| 11:00 – 11:20 | Coffee Break |
| 11:20 – 12:30 | Sessions |
| 12:30 – 14:30 | Lunch and Poster Session |
| 14:30 – 15:50 | Sessions |
| 15:50 – 16:20 | Coffee Break |
| 16:20 – 17:20 | Sessions |
| 19:30 | Conference Dinner |
| 09:30 – 11:00 | Start of the sessions |
| 11:00 – 11:20 | Coffee Break |
| 11:20 – 12:30 | Sessions |
| 12:30 – 14:30 | Closure and Lunch |
| 13:30-16:30 | Workshop 2: How to release MAVE datasets that clinicians can use |
Check the poster and flash and short presentation list:
H10 Marina Barcelona · Av. Bogatell, 64-68, 08005 – Villa Olímpica, Barcelona H10 Marina Barcelona
Residencia Universitaria Resa La Ciutadella · Pg. de Pujades, 33-37, 08018 Barcelona
Hotel SB Icària · Avinguda d’Icària, 195, Sant Martí, 08005, Barcelona
Hotel ibis Styles Barcelona City Bogatell · Carrer de Llull, 71, Hb004742, Sant Martí, 08005 Barcelona
Meson Castilla Atiram Hotel · Carrer de Valldonzella, 5, Ciutat Vella, 08001 Barcelona · Conference discount code: MSS25 (10% off).
Oriente Atiram Hotels Barcelona · Rambla dels Caputxins, 45, 08002 Barcelona · Conference discount code: MSS25 (10% off).
Gran Derby Suite · Carrer de Loreto, 28, Les Corts, 08029 Barcelona · Conference discount code: IBEC (10% off).
Derby Hotel · Carrer de Loreto, 21, Les Corts, 08029 Barcelona · Conference discount code: IBEC (10% off).
Motel One Ciutadella · Pg. de Pujades, 11-13, Sant Martí, 08018 Barcelona · Special price with code: CRG MSS25. Contact with res.barcelona-ciutadella@motel-one.com . (Limited reservations until February 28th)
The conference includes poster sessions and contributed oral presentations where you will have the opportunity to present your work and discuss it with your colleagues.
Abstract submission deadline: 21/01/2024
Notification of acceptance: 13/02/2024
