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 …
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…
detailed, structured, standardised and interoperable genome-wide association study (GWAS…
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation
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 …
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…
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 …
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 …
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
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 …
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. …
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 …
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 …
for estrogen receptor α ( ESR 1) and progesterone receptor ( PGR ). We reported that the loss …