Dániel Süveges
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View article: Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration
Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration Open
Expression Atlas (https://www.ebi.ac.uk/gxa/home) is EMBL-EBI’s comprehensive knowledgebase for gene and protein expression across tissues, cell types, conditions, and multiple species. Since our last update, Expression Atlas has expanded …
View article: Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration
Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration Open
Expression Atlas (https://www.ebi.ac.uk/gxa/home) is EMBL-EBI’s comprehensive knowledgebase for gene and protein expression across tissues, cell types, conditions, and multiple species. Since our last update, Expression Atlas has expanded …
View article: Lit-OTAR framework for extracting biological evidences from literature
Lit-OTAR framework for extracting biological evidences from literature Open
Summary The lit-OTAR framework, developed through a collaboration between Europe PMC and Open Targets, leverages deep learning to revolutionize drug discovery by extracting evidence from scientific literature for drug target identification…
View article: Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery
Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery Open
The Open Targets Platform (https://platform.opentargets.org) is a unique, open-source, publicly-available knowledge base providing data and tooling for systematic drug target identification, annotation, and prioritisation. Since our last r…
View article: Lit-OTAR Framework for Extracting Biological Evidences from Literature
Lit-OTAR Framework for Extracting Biological Evidences from Literature Open
The lit-OTAR framework, developed through a collaboration between Europe PMC and Open Targets, leverages deep learning to revolutionise drug discovery by extracting evidence from scientific literature for drug target identification and val…
View article: Network expansion of genetic associations defines a pleiotropy map of human cell biology
Network expansion of genetic associations defines a pleiotropy map of human cell biology Open
Interacting proteins tend to have similar functions, influencing the same organismal traits. Interaction networks can be used to expand the list of candidate trait-associated genes from genome-wide association studies. Here, we performed n…
View article: The next-generation Open Targets Platform: reimagined, redesigned, rebuilt
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt Open
The Open Targets Platform (https://platform.opentargets.org/) is an open source resource to systematically assist drug target identification and prioritisation using publicly available data. Since our last update, we have reimagined, redes…
View article: Whole-genome sequencing analysis of the cardiometabolic proteome
Whole-genome sequencing analysis of the cardiometabolic proteome Open
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the genetic architect…
View article: Open Targets Platform: supporting systematic drug–target identification and prioritisation
Open Targets Platform: supporting systematic drug–target identification and prioritisation Open
The Open Targets Platform (https://www.targetvalidation.org/) provides users with a queryable knowledgebase and user interface to aid systematic target identification and prioritisation for drug discovery based upon underlying evidence. It…
View article: Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics Open
Open Targets Genetics (https://genetics.opentargets.org) is an open-access integrative resource that aggregates human GWAS and functional genomics data including gene expression, protein abundance, chromatin interaction and conformation da…
View article: Whole genome sequencing analysis of the cardiometabolic proteome
Whole genome sequencing analysis of the cardiometabolic proteome Open
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the genetic architect…
View article: Population‐wide copy number variation calling using variant call format files from 6,898 individuals
Population‐wide copy number variation calling using variant call format files from 6,898 individuals Open
Copy number variants (CNVs) play an important role in a number of human diseases, but the accurate calling of CNVs remains challenging. Most current approaches to CNV detection use raw read alignments, which are computationally intensive t…
View article: Very low-depth whole-genome sequencing in complex trait association studies
Very low-depth whole-genome sequencing in complex trait association studies Open
Motivation Very low-depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association studies. However, a full characterization of the genotype quality and association …
View article: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits Open
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify …
View article: The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 Open
This FAIRsharing record describes: The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published SNP-trait associations, which can be easily integrated with ot…
View article: Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank Open
Osteoarthritis is the most common musculoskeletal disease and the leading cause of disability globally. Here, we perform the largest genome-wide association study for osteoarthritis to date (77,052 cases and 378,169 controls), analysing 4 …
View article: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits Open
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1,457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify…
View article: The genetic architecture of osteoarthritis: insights from UK Biobank
The genetic architecture of osteoarthritis: insights from UK Biobank Open
Osteoarthritis is a common complex disease with huge public health burden. Here we perform a genome-wide association study for osteoarthritis using data across 16.5 million variants from the UK Biobank resource. Following replication and m…
View article: Very low depth whole genome sequencing in complex trait association studies
Very low depth whole genome sequencing in complex trait association studies Open
Motivation Very low depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association studies. However, a full characterisation of the genotype quality and association …
View article: Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits Open
Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolated population, and show enrich…
View article: Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits Open
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) …