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 …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
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 …
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Mapping the proteo-genomic convergence of human diseases
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer's disease
The gene-regulatory landscape of the brain is highly dynamic in health and disease,
coordinating a menagerie of biological processes across distinct cell types. Here, we …
coordinating a menagerie of biological processes across distinct cell types. Here, we …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
PRSice-2: Polygenic Risk Score software for biobank-scale data
SW Choi, PF O'Reilly - Gigascience, 2019 - academic.oup.com
Background Polygenic risk score (PRS) analyses have become an integral part of
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
Genetic analyses of diverse populations improves discovery for complex traits
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …
the biology of complex traits, drug development and clinical guidelines. However, the …