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4th Symposium of the National Research Infrastructure for Genome Sequencing and Analysis
 

May 30th, 2025
 

CIBIO Associação BIOPOLIS 

Campus de Vairão
Vairão, Vila do Conde, Portugal


The GenomePT Symposium 2025 is a 1-day hybrid event dedicated to scientific and technological developments in Genomics. It is focused on the use of next-generation sequencing technologies and computational methods for data analysis to address various scientific questions. 

SCIENTIFIC COMMISSION

José Melo-Ferreira

Margarida Gama Carvalho

Jorge Oliveira

Luís Vieira

Conceição Egas

Fernando J. Regateiro

Gabriela Moura

Henriqueta Silva

 

ORGANISING COMMITTEE

Rita Araújo

José Melo Ferreira

Jorge Neves

Sara Lemos Ferreira

PROGRAMME:                                                                                                                       

  9h00 Registration

  9h30 Welcome (Margarida Gama Carvalho e Nuno Ferrand)

  9h40 GenomePT: Current Landscape and Future Directions (Margarida Gama Carvalho)

10h00 European Efforts for Biodiversity Genomics Research (Robert Waterhouse, Chairman of ERGA,

             Swiss Institute of Bioinformatics - ONLINE)

10h30 Biogenome Portugal: the emerging Portuguese node of the European Reference Genome

             Atlas (ERGA) (José Melo Ferreira, CIBIO-BIOPOLIS/Ricardo J. Lopes, FCUL, CE3C e MUHNAC)

10h50 Coffee-break

11h05 ORAL COMMUNICATIONS 1

11h55 Combined analysis of chromatin accessibility, promoter interactions and whole genome

             sequencing solved the missing heritability in gastric cancer (C. São José, M. Ferreira,

             L. Cordova, A. Pedro, J. Senz, J. Garcia-Pelaez, S. Lobo, I. Gullo, A. André, P. Kaurah, F. Puntieri,

            J. Glaser, D. Huntsman, S. Mundlos, K. Schrader, C. Oliveira)

12h15 Genomic-Derived Data Predicts Functional Impairment in COPD (Rui Marçalo, Guilherme  

            Rodrigues, Miguel Pinheiro, Sonya Neto, Sofia L. Marques, Paula Simão, Vitória Martins, Lília

            Andrade, Maria Aurora Mendes, Manuel A. S. Santos, Vera Afreixo, Alda Marques, Gabriela

            R. Moura) 

12h35  Lunch and Poster session

14h00 Unlocking the Blue Hidden Majority: Transforming Biomonitoring, Food Safety, and Planetary

             Health in Coastal Areas (Bernardo Duarte, Assistant Professor Faculty of Sciences of the

             University of Lisbon | BIOTOX - Biomonitoring and Ecotoxicology Laboratory MARE - Marine

             and Environmental Sciences Centre & ARNET - Aquatic Research Network (LA))

14h20  The possibilities of long-read sequencing for genetic diagnostics (Christian Gilissen, Professor

             of Genome Bioinformatics (Human Genetics), Sint Radboud University Medical Centre)

14h40  Recent Progress in Reference Genome Assembly Pipelines (Tyler Alioto, Chair of the

              Sequencing and Assembly Committee, ERGA - ONLINE)

15h00 Experience of a medical genetics laboratory in NGS methodologies and the clinical importance              of having a high-throughput NGS workflow accredited to the NP EN ISO 15189 standard (Rita                  Cerqueira, CGC Genetics Laboratory Director, Unilabs Portugal)

15h20 Coffee-break

15h35 The Aviti24™ System: Revolutionizing Multiomics – An Integrated Solution for Genomics,          

            Transcriptomics, and Proteomics (Sebastián Celis- Field Application Scientist, Element

            Biosciences)

15h55  Advancing NGS in complex and Vestigial Samples: Towards Better Diagnostics and

             Surveillance (Ricardo Dias, Coordinator | iXLab – Initiative for National Biological Resilience

            Co-coordinator | Genomic Facility Faculty of Sciences – University Lisbon)

16h15 HiFi Sequencing in Population Genomics: A Global Perspective on Leading Projects and

            Innovations (Sukhvinder Nicklen - Human Genetics Market Development Manager EMEA at

            PacBio)

16h35 ORAL COMMUNICATIONS 2

17h10 Closing session

17h15  Nodes Coordinator´s Meeting – private

           

Registration link:

https://docs.google.com/forms/d/e/1FAIpQLSdwUSUEJF3dW-Xln1kifoO4YZsH1dWmAhRfs1E0oXtHnK34Fg/viewform?usp=sharing

Abstract submission deadline:

April, 30th

Abstract acceptance notification:

May, 12th

Instructions for preparing abstracts:

All abstracts related with the field of Genomics (sensu lato) are welcome. Abstract submitters must also be registered for the GenomePT Symposium 2025. Abstracts must be sent by e-mail to cibio.up@cibio.up.pt as an attached Microsoft Word document. These must be written in English and should include the following: title, author list (e.g., Pedro A. Duarte, Susana Simão, etc.), affiliations, abstract text, acknowledgments (optional) and funding (if applicable). The title of the abstract must be in Capital Letters, font size 12 bold in Calibri style, and limited to 200 characters including spaces. The abstract text, acknowledgments and funding sections should have a maximum of 2500 characters (including spaces) and be written in Calibri style font size 11. The abstract text must be divided into the following 4 paragraphs: Introduction, Methodology, Results and Conclusions. Each abstract will be reviewed by the Scientific Programme Committee of the GenomePT Symposium 2025. Relevant abstracts will be selected for oral presentation.

How to get to CIBIO

Address:

CIBIO - Centro de Investigação em Biodiversidade e Recursos Genéticos

Associação Biopolis

Quinta do Crasto

Rua do Crasto nº 765

4485-684 Vairão
Portugal

Detailed information on how to get to CIBIO by public transportation

https://www.cibio.up.pt/en/about/how-to-get-here/

Abstract  Book:

© 2018,  F&MELLEM & 2025 SLFC

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