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 …
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 …
Chromatin accessibility and the regulatory epigenome
SL Klemm, Z Shipony, WJ Greenleaf - Nature Reviews Genetics, 2019 - nature.com
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 …
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …
genetic component, our understanding of these diseases remains incomplete. Here, we …
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 …
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects
With the increasing availability of large-scale GWAS summary data on various complex traits
and diseases, there have been tremendous interests in applications of Mendelian …
and diseases, there have been tremendous interests in applications of Mendelian …
Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation
We conduct high coverage (> 30×) whole-genome sequencing of 180 individuals from 12
indigenous African populations. We identify millions of unreported variants, many predicted …
indigenous African populations. We identify millions of unreported variants, many predicted …
[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …
Europeans, and their transferability to other populations is dependent on many factors (eg …