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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:
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: