Semantic Scholar Open Access 2020 494 sitasi

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

M. Ghoussaini Edward Mountjoy M. Carmona Gareth Peat Ellen M. Schmidt +30 lainnya

Lihat Sumber DOI

Abstrak

Abstract 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 data from a wide range of cell types and tissues to make robust connections between GWAS-associated loci, variants and likely causal genes. This enables systematic identification and prioritisation of likely causal variants and genes across all published trait-associated loci. In this paper, we describe the public resources we aggregate, the technology and analyses we use, and the functionality that the portal offers. Open Targets Genetics can be searched by variant, gene or study/phenotype. It offers tools that enable users to prioritise causal variants and genes at disease-associated loci and access systematic cross-disease and disease-molecular trait colocalization analysis across 92 cell types and tissues including the eQTL Catalogue. Data visualizations such as Manhattan-like plots, regional plots, credible sets overlap between studies and PheWAS plots enable users to explore GWAS signals in depth. The integrated data is made available through the web portal, for bulk download and via a GraphQL API, and the software is open source. Applications of this integrated data include identification of novel targets for drug discovery and drug repurposing.

Topik & Kata Kunci

Computer Science Medicine Biology

Penulis (35)

M. Ghoussaini

Edward Mountjoy

M. Carmona

Gareth Peat

Ellen M. Schmidt

Andrew Hercules

Luca Fumis

Alfredo Miranda

D. Carvalho-Silva

A. Buniello

Tony Burdett

J. Hayhurst

Jarrod Baker

Javier Ferrer

Asier Gonzalez-Uriarte

S. Jupp

M. Karim

Gautier Koscielny

Sandra Machlitt-Northen

Cinzia Malangone

Z. Pendlington

P. Roncaglia

D. Suveges

Daniel Wright

Olga Vrousgou

Eliseo Papa

H. Parkinson

J. MacArthur

J. Todd

J. Barrett

J. Schwartzentruber

D. G. Hulcoop

D. Ochoa

E. McDonagh

I. Dunham

Format Sitasi

APA MLA BibTeX

Ghoussaini, M., Mountjoy, E., Carmona, M., Peat, G., Schmidt, E.M., Hercules, A. et al. (2020). Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. https://doi.org/10.1093/nar/gkaa840

Akses Cepat

Lihat di Sumber doi.org/10.1093/nar/gkaa840

Informasi Jurnal

Tahun Terbit: 2020
Bahasa: en
Total Sitasi: 494×
Sumber Database: Semantic Scholar
DOI: 10.1093/nar/gkaa840
Akses: Open Access ✓