15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Meta-analysis of genome-wide association studies for height and body mass index in∼ 700000 individuals of European ancestry
Recent genome-wide association studies (GWAS) of height and body mass index (BMI) in∼
250000 European participants have led to the discovery of∼ 700 and∼ 100 nearly …
250000 European participants have led to the discovery of∼ 700 and∼ 100 nearly …
Chromatin accessibility and the regulatory epigenome
Physical access to DNA is a highly dynamic property of chromatin that plays an essential
role in establishing and maintaining cellular identity. The organization of accessible …
role in establishing and maintaining cellular identity. The organization of accessible …
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
Abstract Background: The number of Mendelian randomization analyses including large
numbers of genetic variants is rapidly increasing. This is due to the proliferation of genome …
numbers of genetic variants is rapidly increasing. This is due to the proliferation of genome …
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …
alleles, including common alleles of small effect that might be detected by genome-wide …
An atlas of genetic correlations across human diseases and traits
Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …
etiological insights and help prioritize likely causal relationships. The major challenges …
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
Nature genetics, 2015 - nature.com
Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is
largely based on genome-wide association study (GWAS) analysis of common SNPs …
largely based on genome-wide association study (GWAS) analysis of common SNPs …
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Both polygenicity (many small genetic effects) and confounding biases, such as cryptic
relatedness and population stratification, can yield an inflated distribution of test statistics in …
relatedness and population stratification, can yield an inflated distribution of test statistics in …