Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
The multiplex model of the genetics of Alzheimer's disease
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
Horizontal pleiotropy occurs when the variant has an effect on disease outside of its effect on
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
The role of inflammation and genetics in periodontal disease
BG Loos, TE Van Dyke - Periodontology 2000, 2020 - Wiley Online Library
Periodontitis is a complex disease:(a) various causative factors play a role simultaneously
and interact with each other; and (b) the disease is episodic in nature, and bursts of disease …
and interact with each other; and (b) the disease is episodic in nature, and bursts of disease …
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
Clinical measurements can be viewed as useful intermediate phenotypes to promote
understanding of complex human diseases. To acquire comprehensive insights into the …
understanding of complex human diseases. To acquire comprehensive insights into the …
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
J MacArthur, E Bowler, M Cerezo, L Gil… - Nucleic acids …, 2017 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog has provided data from published genome-wide
association studies since 2008. In 2015, the database was redesigned and relocated to …
association studies since 2008. In 2015, the database was redesigned and relocated to …
A comparison of robust Mendelian randomization methods using summary data
The number of Mendelian randomization (MR) analyses including large numbers of genetic
variants is rapidly increasing. This is due to the proliferation of genome‐wide association …
variants is rapidly increasing. This is due to the proliferation of genome‐wide association …
[HTML][HTML] Trans effects on gene expression can drive omnigenic inheritance
Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …
typical complex traits, most of the heritability is due to huge numbers of common variants …
Detection and interpretation of shared genetic influences on 42 human traits
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
The druggable genome and support for target identification and validation in drug development
Target identification (determining the correct drug targets for a disease) and target validation
(demonstrating an effect of target perturbation on disease biomarkers and disease end …
(demonstrating an effect of target perturbation on disease biomarkers and disease end …