The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

A genome-wide association study of serum proteins reveals shared loci with common diseases

(2022) Alexander Gudjonsson et al.   Nature Communications

The individual and global impact of copy-number variants on complex human traits

(2022) Chiara Auwerx et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

(2021) Samuel A. Lambert et al.   NATURE GENETICS

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

Ensembl 2022

(2021) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

The GWAS Diversity Monitor tracks diversity by disease in real time

(2020) Melinda C. Mills et al.   NATURE GENETICS

Human and mouse essentiality screens as a resource for disease gene discovery

(2020) Pilar Cacheiro et al.   Nature Communications

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

(2020) Maya Ghoussaini et al.   NUCLEIC ACIDS RESEARCH

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Connecting genetic risk to disease end points through the human blood plasma proteome

(2017) Karsten Suhre et al.   Nature Communications

PhenoScanner: a database of human genotype–phenotype associations

(2016) James R. Staley et al.   BIOINFORMATICS

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

(2013) Erin M Ramos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Software as a service for data scientists

(2012) Bryce Allen et al.   COMMUNICATIONS OF THE ACM

Globus Online: Accelerating and Democratizing Science through Cloud-Based Services

(2011) Ian Foster   IEEE INTERNET COMPUTING

Modeling sample variables with an Experimental Factor Ontology

(2010) James Malone et al.   BIOINFORMATICS