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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
Zoom Link: Topic: 4 Simposio do GenomePT
EVENTO ONLINE Time: May 30, 2025 09:00 Lisbon Link: https://videoconf-colibri.zoom.us/j/94175119050
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 José Melo Ferreira)
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
ORAL COMMUNICATIONS 1
11h05 Long-read sequencing of a giant plant Y chromosome (Carol Moraga, Catarina Branco,
Quentin Rougemont, Pavel Jedlička, Eddy Mendoza-Galindo, Paris Veltsos, Melissa Hanique,
Ricardo C Rodríguez de la Vega, Eric Tannier, Xiaodong Liu, Claire Lemaitre, Peter D Fields,
Corinne Cruaud, Karine Labadie, Caroline Belser, Jerome Briolay, Sylvain Santoni, Radim Cegan,
Raquel Linheiro, Gabriele Adam, Adil El Filali, Vinciane Mossion, Adnane Boualem, Raquel
Tavares, Amine Chebbi, Richard Cordaux, Cécile Fruchard, Djivan Prentout, Amandine Velt,
Bruno Spataro, Stephane Delmotte, Laura Weingartner, Helena Toegelová, Zuzana Tulpová,
Petr Cápal, Hana Šimková, Helena Štorchová, Manuela Krüger, Oushadee A J Abeyawardana,
Douglas R Taylor, Matthew S Olson, Daniel B Sloan, Sophie Karrenberg, Lynda F Delph,
Deborah Charlesworth, Aline Muyle, Tatiana Giraud, Abdelhafid Bendahmane, Alex Di Genova, Mohammed-Amin Madoui, Roman Hobza, Gabriel A B Marais)
11h17 Comparative Population Genomics Illuminates Species Boundaries and Symbiotic Disruption in
EunicellaOctocorals (Tristan Bertand, Xenia Sarropoulou, Tereza Manousaki, Costas
Tsigenopoulos, Oscar Babe, Hugo Sainz Meyer, Márcio Coelho, Jamie Stevens, Joana R. Xavier,
Stephane Sartoretto, Agostinho Antunes, Marta Gut, Jessica Gomes-Garrido, Fernando Cruz,
Tyler Alioto, Joaquim Garrabou, Frédérique Viard, Didier Aurelle, Jean-Baptiste Ledoux)
11h29 Using genomics to understand the evolution of a locally adapted trait: seasonal camouflage in
the least weasel (Inês Miranda, Raquel Ruivo, Liliana Farelo, Marcela Alvarenga, Zbigniew
Borowski, Morten Elmeros, Daniela C. Kalthoff, Juha Merilä, Jürg P. Müller, Laurent Schley, Franz
Suchentrunk, Janne Sundell, Mónica Rodrigues, Margarida Santos-Reis, Carlos Rodríguez
Fernandes, Karol Zub, Jeffrey M. Good, L. Scott Mills, L. Filipe C. Castro, Love Dalén, José Melo-
Ferreira)
11h41 How fragmented genomes can boost eDNA analyses (Manuel Curto, Ana Veríssimo, Giulia
Riccioni, Filipe Ribeiro, Sissel Jentoft, Carlos D. Santos, Maria Judite Alves, Hugo F. Gante)
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)
ORAL COMMUNICATIONS 2
16h35 The Portuguese variome from over 12,000 exomes: improving diagnostics and providing new
research opportunities (Mariana Ribeiro, Mafalda Melo, Susana Valente, Filipe Alves, Jorge
Sequeiros, Margarida Venâncio, Diana Antunes, João Parente Freixo, Jorge Oliveira, Paulo Silva)
16h47 An integrated genomic and phenotypic bioinformatics approach for candidate genes
prioritization in undiagnosed neurological disease patients (Susana Valente, Mariana Ribeiro, Paulo Silva, João Parente Freixo, Marina Magalhães, Jorge Oliveira)
16h59 Ana Raquel Soares: Multi-omics analysis of the aging liver reveals shifts in translation, β -
catenine, and insulin signaling pathways in female mice (Stephany Francisco, Margarida
Ferreira, Yousef Khan, Luca Gherardini, Ana Nobre, Cátia Santa, Gabriela Moura, Bruno
Manadas, José Sousa, Ana R Soares, Manuel A.S. Santos)
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: