Detecting epistasis in human complex traits
Genome-wide association studies (GWASs) have become the focus of the statistical analysis
of complex traits in humans, successfully shedding light on several aspects of genetic …
of complex traits in humans, successfully shedding light on several aspects of genetic …
The genetic architecture of primary biliary cholangitis
Primary biliary cholangitis (PBC) is a rare autoimmune disease of the liver affecting the small
bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and …
bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and …
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci
Meta-analyses of association results for blood pressure using exome-centric single-variant
and gene-based tests identified 31 new loci in a discovery stage among 146,562 …
and gene-based tests identified 31 new loci in a discovery stage among 146,562 …
[HTML][HTML] Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have
been identified using genome wide association studies (GWAS). However, the genetic …
been identified using genome wide association studies (GWAS). However, the genetic …
[HTML][HTML] Detecting epistasis with the marginal epistasis test in genetic mapping studies of quantitative traits
Epistasis, commonly defined as the interaction between multiple genes, is an important
genetic component underlying phenotypic variation. Many statistical methods have been …
genetic component underlying phenotypic variation. Many statistical methods have been …
[HTML][HTML] 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 …
[HTML][HTML] Combining multiple hypothesis testing with machine learning increases the statistical power of genome-wide association studies
The standard approach to the analysis of genome-wide association studies (GWAS) is
based on testing each position in the genome individually for statistical significance of its …
based on testing each position in the genome individually for statistical significance of its …
DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies
B Mieth, A Rozier, JA Rodriguez… - NAR genomics and …, 2021 - academic.oup.com
Deep learning has revolutionized data science in many fields by greatly improving
prediction performances in comparison to conventional approaches. Recently, explainable …
prediction performances in comparison to conventional approaches. Recently, explainable …
[HTML][HTML] A comparison of methods for interpreting random forest models of genetic association in the presence of non-additive interactions
Background Non-additive interactions among genes are frequently associated with a
number of phenotypes, including known complex diseases such as Alzheimer's, diabetes …
number of phenotypes, including known complex diseases such as Alzheimer's, diabetes …
[HTML][HTML] Transcriptome-wide gene-gene interaction associations elucidate pathways and functional enrichment of complex traits
It remains unknown to what extent gene-gene interactions contribute to complex traits. Here,
we introduce a new approach using predicted gene expression to perform exhaustive …
we introduce a new approach using predicted gene expression to perform exhaustive …