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 …
Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
[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 …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
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 …
Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …