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10 years of GWAS discovery: biology, function, and translation
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 …
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
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …
European descent, but it is essential that diverse populations become better represented …
Exome sequencing and analysis of 454,787 UK Biobank participants
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 …
consequences of altering each protein-coding gene in the genome. Here we used exome …
The UK Biobank resource with deep phenoty** and genomic data
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 …
collected on approximately 500,000 individuals from across the United Kingdom, aged …
Large-scale association analyses identify host factors influencing human gut microbiome composition
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 …
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
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
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 …
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
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 …
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
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 …
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 …
sought to comprehensively catalogue human genetic variation across populations, providing …