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Open AccessJournal ArticleDOI

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

TLDR
Improved data access is improved with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database.
Abstract
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.

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Citations
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The GTEx Consortium atlas of genetic regulatory effects across human tissues

François Aguet, +167 more
- 01 Jan 2020 - 
Posted ContentDOI

The GTEx Consortium atlas of genetic regulatory effects across human tissues

TL;DR: Analysis of the v8 data provides insights into the tissue-specificity of genetic effects, and shows that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.
Journal ArticleDOI

The DisGeNET knowledge platform for disease genomics: 2019 update.

TL;DR: The DisGeNET platform, a knowledge management platform integrating and standardizing data about disease associated genes and variants from multiple sources, is an interoperable resource supporting a variety of applications in genomic medicine and drug R&D.
Journal ArticleDOI

A molecular cell atlas of the human lung from single-cell RNA sequencing.

TL;DR: Droplet- and plate-based single cell RNA sequencing applied to ~75,000 human cells across all lung tissue compartments and circulating blood, combined with a multi-pronged cell annotation approach, have allowed them to define the gene expression profiles and anatomical locations of 58 cell populations in the human lung.
Journal ArticleDOI

Search and sequence analysis tools services from EMBL-EBI in 2022

TL;DR: Recent improvements to EBI Search and Job Dispatcher tools frameworks are described and updates made to accommodate the increasing data requirements during the COVID-19 pandemic are described.
References
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Journal ArticleDOI

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
Journal ArticleDOI

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Journal ArticleDOI

The FAIR Guiding Principles for scientific data management and stewardship

TL;DR: The FAIR Data Principles as mentioned in this paper are a set of data reuse principles that focus on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals.
Journal ArticleDOI

The International HapMap Project

John W. Belmont, +145 more
- 18 Dec 2003 - 
TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.
Journal ArticleDOI

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie, +132 more
- 08 May 2015 - 
TL;DR: The landscape of gene expression across tissues is described, thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants are cataloged, complex network relationships are described, and signals from genome-wide association studies explained by eQTLs are identified.
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