A random forest approach to capture genetic effects in the presence of population structure
The accurate mapping of causal variants in genome-wide association studies requires the
consideration of both, confounding factors (for example, population structure) and nonlinear …
consideration of both, confounding factors (for example, population structure) and nonlinear …
Multi-resolution localization of causal variants across the genome
In the statistical analysis of genome-wide association data, it is challenging to precisely
localize the variants that affect complex traits, due to linkage disequilibrium, and to maximize …
localize the variants that affect complex traits, due to linkage disequilibrium, and to maximize …
Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics
Mendelian randomization (MR) is a valuable tool for detecting causal effects by using
genetic variant associations. Opportunities to apply MR are growing rapidly with the …
genetic variant associations. Opportunities to apply MR are growing rapidly with the …
An efficient multi-locus mixed-model approach for genome-wide association studies in structured populations
Population structure causes genome-wide linkage disequilibrium between unlinked loci,
leading to statistical confounding in genome-wide association studies. Mixed models have …
leading to statistical confounding in genome-wide association studies. Mixed models have …
Leveraging genetic variability across populations for the identification of causal variants
Genome-wide association studies have been performed extensively in the last few years,
resulting in many new discoveries of genomic regions that are associated with complex …
resulting in many new discoveries of genomic regions that are associated with complex …
Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks
Causal inference via Mendelian randomization requires making strong assumptions about
horizontal pleiotropy, where genetic instruments are connected to the outcome not only …
horizontal pleiotropy, where genetic instruments are connected to the outcome not only …
Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort
We report a novel high-throughput method to empirically quantify individual-specific
regulatory element activity at the population scale. The approach combines targeted DNA …
regulatory element activity at the population scale. The approach combines targeted DNA …
Identifying causal variants at loci with multiple signals of association
Although genome-wide association studies have successfully identified thousands of risk
loci for complex traits, only a handful of the biologically causal variants, responsible for …
loci for complex traits, only a handful of the biologically causal variants, responsible for …
A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements
HF Ainsworth, SY Shin, HJ Cordell - Genetic epidemiology, 2017 - Wiley Online Library
Genome wide association studies (GWAS) have been very successful over the last decade
at identifying genetic variants associated with disease phenotypes. However, interpretation …
at identifying genetic variants associated with disease phenotypes. However, interpretation …
Validating, augmenting and refining genome-wide association signals
JPA Ioannidis, G Thomas, MJ Daly - Nature Reviews Genetics, 2009 - nature.com
Studies using genome-wide platforms have yielded an unprecedented number of promising
signals of association between genomic variants and human traits. This Review addresses …
signals of association between genomic variants and human traits. This Review addresses …