From genome-wide associations to candidate causal variants by statistical fine-mapping
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Genetic architecture: the shape of the genetic contribution to human traits and disease
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
[HTML][HTML] The UK Biobank resource with deep phenotyping and genomic data
C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …
collected on approximately 500,000 individuals from across the United Kingdom, aged …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
[HTML][HTML] A one-penny imputed genome from next-generation reference panels
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …
greatly increases the number of markers that can be tested for association with a trait. In …
The immune landscape of cancer
We performed an extensive immunogenomic analysis of more than 10,000 tumors
comprising 33 diverse cancer types by utilizing data compiled by TCGA. Across cancer …
comprising 33 diverse cancer types by utilizing data compiled by TCGA. Across cancer …
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 …
[HTML][HTML] Genome-wide association studies of brain imaging phenotypes in UK Biobank
The genetic architecture of brain structure and function is largely unknown. To investigate
this, we carried out genome-wide association studies of 3,144 functional and structural brain …
this, we carried out genome-wide association studies of 3,144 functional and structural brain …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
E Evangelou, HR Warren, D Mosen-Ansorena… - Nature …, 2018 - nature.com
High blood pressure is a highly heritable and modifiable risk factor for cardiovascular
disease. We report the largest genetic association study of blood pressure traits (systolic …
disease. We report the largest genetic association study of blood pressure traits (systolic …