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

A Buniello, JAL MacArthur, M Cerezo… - Nucleic acids …, 2019 - academic.oup.com
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

E Sollis, A Mosaku, A Abid, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
The NHGRI-EBI GWAS Catalog ( www.ebi.ac.uk/gwas ) is a FAIR knowledgebase providing
detailed, structured, standardised and interoperable genome-wide association study (GWAS…

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

…, L Gil, S Jupp, SC Ritchie, Y Xu, A Buniello… - Nature Genetics, 2021 - nature.com
We present the Polygenic Score (PGS) Catalog ( https://www.PGSCatalog.org ), an open
resource of published scores (including variants, alleles and weights) and consistently curated …

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

…, K Tsirigos, O Razuvayevskaya, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
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…

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

…, A Miranda, D Carvalho-Silva, A Buniello… - Nucleic acids …, 2021 - academic.oup.com
Open Targets Genetics ( https://genetics.opentargets.org ) is an open-access integrative
resource that aggregates human GWAS and functional genomics data including gene …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

…, G Peat, A Miranda, L Fumis, J Hayhurst, A Buniello… - Nature …, 2021 - nature.com
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene(s) is a major challenge. In the present study, we …

[HTML][HTML] Mouse screen reveals multiple new genes underlying mouse and human hearing loss

…, V Rook, MA Lewis, J Chen, A Buniello… - PLoS …, 2019 - journals.plos.org
Adult-onset hearing loss is very common, but we know little about the underlying molecular
pathogenesis impeding the development of therapies. We took a genetic approach to identify …

[HTML][HTML] A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

…, A Milano, E Hastings, C Malangone, A Buniello… - Genome biology, 2018 - Springer
The accurate description of ancestry is essential to interpret, access, and integrate human
genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. …

[PDF][PDF] Workshop proceedings: GWAS summary statistics standards and sharing

JAL MacArthur, A Buniello, LW Harris, J Hayhurst… - Cell Genomics, 2021 - cell.com
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits
in humans. The open sharing of GWAS summary statistics (SumStats) is essential in …

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing

A Buniello, NJ Ingham, MA Lewis, AC Huma… - EMBO molecular …, 2016 - embopress.org
WBP 2 encodes the WW domain‐binding protein 2 that acts as a transcriptional coactivator
for estrogen receptor α ( ESR 1) and progesterone receptor ( PGR ). We reported that the loss …