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 …
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 …
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 genome-wide association study of coronary artery disease in genetically diverse populations
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
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 …
The complex genetic architecture of Alzheimer's disease: novel insights and future directions
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative
disorder and the most common form of dementia. AD is highly heritable, with heritability …
disorder and the most common form of dementia. AD is highly heritable, with heritability …
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 …
Towards clinical utility of polygenic risk scores
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …
management. Risk prediction typically includes risk factors such as age, sex, family history of …
Personalized early detection and prevention of breast cancer: ENVISION consensus statement
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …
Breast Cancer (ENVISION) brings together several international research consortia working …
Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
and inferring them from genetic data has the potential to facilitate a wide range of analyses …