genomept

5th Symposium of the Portuguese Infrastructure for Genome Sequencing and Analysis

July 1, 2026

Faculdade de Ciências da Universidade de Lisboa

Auditorium 6.1.36 - C6 Building
Lisbon, Portugal

The GenomePT Symposium 2026 is a one-day meeting dedicated to current developments in genomics and genome technologies, bringing together researchers, national infrastructure platforms, clinicians, industry representatives and technology developers working across sequencing, bioinformatics and genomic applications.

The symposium will highlight advances in genome and transcriptome analysis, emerging omics methodologies, and the growing role of genomics in healthcare, biodiversity, environmental sciences and biotechnology. The meeting also aims to promote discussion on innovation, training, data analysis and the development of national genomics capacity and infrastructures in Portugal.

SCIENTIFIC COMMISSION

Conceição Egas

Gabriela Moura

Henriqueta Silva

Jorge Oliveira

Luís Vieira

Margarida Gama-Carvalho

Patricia Brito

Vitor Sousa

ORGANISING COMMITTEE

Margarida Gama-Carvalho

Vítor Sousa

PROGRAMME:

9h00 Registration

9h30 Welcome – M. Gama-Carvalho, CIÊNCIAS & ULisboa representatives

9h45 GenomePT 2016-2026 : Building genomics capacity in Portugal (M. Gama-Carvalho)

Morning session: From Genomes to Precision Medicine

Plenary Session - Genomic Medicine in Portugal

10h00 i3S-HEALTH: Teaming to Drive the Future of Genomic Medicine.

Cláudio Sunkel, I3S Director

10h20 PT_MedGen: National Strategy for Genomic Medicine.

Astrid Vicente, PT_MedGen Coordinator, INSA

10h40 Round table: Building Genomic Medicine in Portugal: Strategies, Infrastructures and Implementation.

Moderated by Manuel Santos (MIA, UCoimbra). Panel: Astrid Vicente (INSA), Cláudio Sunkel (i3S), Jorge Oliveira (BioData), Sérgio Sousa (ULS Coimbra), Margarida Gama Carvalho (GenomePT)

11h15 Coffee Break and Posters

11h45 Genetic test clinical utility and variant (re)classification: a long‑read story and beyond.

Jorge Oliveira, CGPP - IBMC

12h05 Learning hub in rare diseases and the Preventable Project.

Carla Oliveira, I3S

Selected Oral Presentations 1

12h25 Transcriptional and Chromatin Determinants of Human Naïve Regulatory CD4 T Cell Identity.

Alexandre Raposo, Gulbenkian Institute for Molecular Medicine

12h35 Medieval Iasi Through the Lens of Ancient DNA: Population Structure, Ancestry and Cemetery-Level

Variation.

João Brochado de Almeida, Universidade do Minho

12h45 Detection of the BRCA2 c.156_157insAlu germline variant from FFPE tumor samples DNA using short-

read targeted NGS.

Manuela Pinheiro, IPO-Porto

12h55 Lunch and Poster session

Afternoon Session - From Discovery to Societal Impact

Plenary Session - European Genomics Infrastructures

14h30 EASIGEN-DS Consortium – Design Study for a Research Infrastructure on Advanced Genomics

Technologies.

Ivo Gut, Director, Centre Nacional d´Anàlisi Genòmica, Spain

15h00 Metabolic innovation through horizontal gene transfer in yeasts

Paula Gonçalves, UCIBIO, FCT-Nova

Technology Spotlights

(Technology spotlights are short presentations by industry and technology partners on emerging sequencing platforms, workflows, and applications)

15h20 Sequencing reimagined: introducing the Illumina Trupath Genome.

Stef Kupers, Illumina

15h40 Beyond the Blind Spots: What Long-Read Sequencing is changing in Human Genomics.

Ximo Garcia, PacBio

16h00 Coffee Break and posters

16h30 Past Genomes, Future Conservation: Museomics to the rescue.

Ricardo Lopes, Ce3C, CIÊNCIAS ULisboa

Technology Spotlights

16h50 New quality standard of sequencing with Aviti.

Agnieszka Ciesielska, Element Biosciences

17h10 Rethinking WGS with MGI: Why Quality, Speed, and Cost No Longer Require Trade-offs.

Bernard Okere, MGI

17h30 Setting new boundaries for single-cell and spatial multiomics analysis with 10X Genomics.

Ana Borges, BonsaiLabs

Selected Oral Presentations 2

17h45 A genome language model for mapping DNA replication origins.

Francisco Berkemeier, University of Cambridge

17h55 Transcriptomic signatures differentiating the successes and limitations of regeneration in a marine annelid.

Inês Moutinho Cabral, UCIBIO, FCT-UNL

18h05 Single nucleus transcriptome atlas of the honey bee gut.

Waldan Kwong, Gulbenkian Institute for Molecular Medicine

18h15 Closing Session

How to Get to the Symposium

Address

The 5th GenomePT Symposium will take place at Auditorium 6.1.36, Building C6, Faculty of Sciences of the University of Lisbon (Ciências ULisboa), Campo Grande, 1749-016 Lisbon, Portugal.

By Car

The Faculty of Sciences campus is accessible from Campo Grande and the 2ª Circular. Parking is available on campus and in nearby public parking areas, subject to availability.

By Metro

The venue is within walking distance of the Cidade Universitária (Yellow Line) and Campo Grande (Green and Yellow Lines) metro stations. Both stations are approximately 10–15 minutes from Building C6.

Location in Campus

Building C6 is located within the Ciências ULisboa campus at Campo Grande. Follow campus signage to Building C6 and proceed to Auditorium 6.1.36, near Bar do C6.

Online Attendance Registration

Abstract submission and registration for on-site attendance are now closed

Please click here to register for the 5th GenomePT Symposium.

Registration for remote participation in the 5th GenomePT Symposium is now open. Participants wishing to attend the event online must complete the registration form by 30 June 2026 at 17:00 (Lisbon time).

Registration is mandatory for all remote attendees in order to receive access information and participate in the event.

We look forward to welcoming you online!