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Danielle Welter
Researcher at European Bioinformatics Institute
Publications - 11
Citations - 4833
Danielle Welter is an academic researcher from European Bioinformatics Institute. The author has contributed to research in topics: Ontology (information science) & Semantic similarity. The author has an hindex of 4, co-authored 11 publications receiving 4290 citations. Previous affiliations of Danielle Welter include National Institutes of Health & Cardiff University.
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Journal ArticleDOI
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Danielle Welter,Jacqueline A. L. MacArthur,Joannella Morales,Tony Burdett,Peggy Hall,Heather Junkins,Alan Klemm,Paul Flicek,Teri A. Manolio,Lucia A. Hindorff,Helen Parkinson +10 more
TL;DR: A number of recent improvements to theNHGRI Catalog of Published Genome-Wide Association Studies are presented, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.
Journal ArticleDOI
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Jacqueline A. L. MacArthur,Emily H. Bowler,Maria Cerezo,Laurent Gil,Peggy Hall,Emma Hastings,Heather Junkins,Aoife McMahon,Annalisa Milano,Joannella Morales,Zoë May Pendlington,Danielle Welter,Tony Burdett,Lucia A. Hindorff,Paul Flicek,Fiona Cunningham,Helen Parkinson +16 more
TL;DR: Improvements to the NHGRI-EBI GWAS Catalog improved the data release frequency by increasing automation of curation and providing scaling improvements, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.
Journal ArticleDOI
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
Joannella Morales,Danielle Welter,Emily H. Bowler,Maria Cerezo,Laura W. Harris,Aoife McMahon,Peggy Hall,Heather Junkins,Annalisa Milano,Emma Hastings,Cinzia Malangone,Annalisa Buniello,Tony Burdett,Paul Flicek,Helen Parkinson,Fiona Cunningham,Lucia A. Hindorff,Jacqueline A. L. MacArthur +17 more
TL;DR: It is found that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations.
Journal ArticleDOI
Webulous and the Webulous Google Add-On - a web service and application for ontology building from templates
TL;DR: The Webulous system provides infrastructure to specify templates for populating ontology design patterns that get transformed into OWL assertions in a target ontology, used as part of the development of several ontologies at the European Bioinformatics Institute.
Posted ContentDOI
A standardized framework for representation of ancestry data in genomics studies
Joannella Morales,Emily H. Bowler,Annalisa Buniello,Maria Cerezo,Peggy Hall,Laura W. Harris,Emma Hastings,Heather Junkins,Cinzia Malangone,Aoife McMahon,Annalisa Milano,Danielle Welter,Tony Burdett,Fiona Cunningham,Paul Flicek,Helen Parkinson,Lucia A. Hindorff,Jacqueline A. L. MacArthur +17 more
TL;DR: In this paper, the NHGRI-EBI GWAS catalog was used to provide guidelines for the consistent, unambiguous description of ancestry, and a framework that is applicable to all human genomics studies and resources.