BiG Talks – Network based analysis of 1002 GWAS study defines a pleiotropy map of human cell biology

September 8, 2021, 15:00 – 16:00


BiG Talks


Online event via Zoom

BiG Talks – Network based analysis of 1002 GWAS study defines a pleiotropy map of human cell biology

Virtual Event Virtual Event

September 8 @ 15:00 16:00 CEST

BiG Talks: Integrative Omics

Arranged by the SciLifeLab platforms for Bioinformatics, Genomics and Diagnostics Development

The Bioinformatics and Genomics seminar series (“BiG Talks”) is an initiative arranged by the SciLifeLab platforms for Bioinformatics (NBIS), Genomics (NGI) and Clinical Genomics platform. The seminar series aims to give inspiration to the SciLifeLab community and to create new networking possibilities. Each event will be broadcasted over Zoom where you will be able to interact with the speakers, and live broadcasted at the SciLifeLab YouTube channel

In this seminar series, run in parallel with the ELIXIR-SE / NBIS workshop in Omics Integration and Systems Biology, we will be broadcasting three seminars about research and tools for integration of omics data through systems biology approaches, in humans and model organisms. Please use the following link to register and access the Zoom link:

8th of September, 15:00 – 16:00 CET

Network based analysis of 1002 GWAS study defines a pleiotropy map of human cell biology

Dr. Pedro Beltrao
Group Leader, EMBL-EBI, United Kingdom

More info, see below

10th of September, 13:00 – 13:55 CET

Metabolic Atlas: genome-scale metabolic models for easy browsing and analysis

Mihail Anton
Project Manager for Metabolic Atlas, NBIS / Chalmers University, Sweden

More info

10th of September, 14:00 – 15:00 CET

Network-based integration and visualization of large-scale data

Dr. Lars Juhl Jensen
Group Leader, Novo Nordisk Foundation Center for Protein Research, Denmark

More info

Network based analysis of 1002 GWAS study defines a pleiotropy map of human cell biology

Dr. Pedro Beltrao, Group Leader, EMBL – EBI, United Kingdom


Understanding how genetic variation contributes to phenotypic differences is a central question in biology. This requires models that can describe how rare and common genetic variability impacts on different cellular components and traits. To study the impact of rare variants we develop and combine variant effect predictors for protein stability, interaction affinity, and gene expression regulation. We have applied these to study the impact of rare variants on trait variation in strains of micro-organisms, including panels of 1000 strains of E. coli and S. cerevisiae.  For human we have used a network-based approach to study 1002 traits analysed by genome wide association studies (GWAS). Based on the principle that genes associated with the same phenotype tend to be involved in the same cellular processes, we performed a network expansion and prioritization of trait associated genes. The network based gene-trait association scores allows for the identification of related traits and the biological processes that they share. Based on this we can identify pleiotropic biological processes that can influence a large number of human traits and identify opportunities for drug repurposing. Finally, I will illustrate how this analysis can be combined with patient specific mRNA/protein data for further prioritization. I will focus on neurodegeneration diseases to illustrate the identification of shared aetiology and further integrate ALS SOD1 mutant patient mRNA/protein data to identify novel astrocyte candidate ALS linked genes. As a future perspective I will briefly discuss the need for approaches that can jointly integrate common and rare genetic variation to improve our understanding of trait variation.


Dr. Pedro Beltrao is a group leader at EMBL – EBI where his research group seeks to understand how cellular functions have diverged during evolution as well as how they are altered in disease. He employs systems biology techniques to analyse GWAS, post-translational modifications (PTMs) data from mass-spectrometry experiments, among other omics, to study the molecular sources of phenotypic novelties, exploring how DNA changes are propagated through molecular structures and interaction networks to give rise to phenotypic variability. Dr. Beltrao has a PhD in Biology from the University of Aveiro (research conducted at EMBL-Heidelberg), after which he conducted his postdoctoral research at the University of California San Francisco. Dr. Beltrao is a group leader at EMBL-EBI since 2013, and will join ETH Zurich in 2022.  Homepage:

Host: Rui Benfeitas, NBIS Stockholm (

Date: September 8, 15:00 – 16:00 CET online on Zoom

Broadcast link (live event): SciLifeLab YouTube channel 

Last updated: 2021-09-02

Content Responsible: David Gotthold(