10 years of GWAS discovery: biology, function, and translation

PM Visscher, NR Wray, Q Zhang, P Sklar… - The American Journal of …, 2017 - cell.com
Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …

[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Exome sequencing and analysis of 454,787 UK Biobank participants

JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021 - nature.com
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

The UK Biobank resource with deep phenoty** and genomic data

C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …

Large-scale association analyses identify host factors influencing human gut microbiome composition

A Kurilshikov, C Medina-Gomez, R Bacigalupe… - Nature …, 2021 - nature.com
To study the effect of host genetics on gut microbiome composition, the MiBioGen
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

BW Kunkle, B Grenier-Boley, R Sims, JC Bis… - Nature …, 2019 - nature.com
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …

[HTML][HTML] Fast two-stage phasing of large-scale sequence data

BL Browning, X Tian, Y Zhou, SR Browning - The American Journal of …, 2021 - cell.com
Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast,
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

M Liu, Y Jiang, R Wedow, Y Li, DM Brazel, F Chen… - Nature …, 2019 - nature.com
Tobacco and alcohol use are leading causes of mortality that influence risk for many
complex diseases and disorders. They are heritable, and etiologically related, behaviors that …

A global reference for human genetic variation

1000 Genomes Project Consortium - Nature, 2015 - pmc.ncbi.nlm.nih.gov
Human genetic variation in more than 2,500 individuals The 1000 Genomes Project has
sought to comprehensively catalogue human genetic variation across populations, providing …