[HTML][HTML] Assessment of performance, interpretability, and explainability in artificial intelligence–based health technologies: what healthcare stakeholders need to know
L Farah, JM Murris, I Borget, A Guilloux… - Mayo Clinic …, 2023 - Elsevier
This review aimed to specify different concepts that are essential to the development of
medical devices (MDs) with artificial intelligence (AI)(AI-based MDs) and shed light on how …
medical devices (MDs) with artificial intelligence (AI)(AI-based MDs) and shed light on how …
Likelihood-based Mendelian randomization analysis with automated instrument selection and horizontal pleiotropic modeling
Mendelian randomization (MR) is a common tool for identifying causal risk factors
underlying diseases. Here, we present a method, MR with automated instrument …
underlying diseases. Here, we present a method, MR with automated instrument …
kTWAS: integrating kernel machine with transcriptome-wide association studies improves statistical power and reveals novel genes
The power of genotype–phenotype association mapping studies increases greatly when
contributions from multiple variants in a focal region are meaningfully aggregated. Currently …
contributions from multiple variants in a focal region are meaningfully aggregated. Currently …
Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies
Transcriptome-wide association study (TWAS) is an important integrative method for
identifying genes that are causally associated with phenotypes. A key step of TWAS involves …
identifying genes that are causally associated with phenotypes. A key step of TWAS involves …
[HTML][HTML] Stable predictive markers for Phytophthora sojae avirulence genes that impair infection of soybean uncovered by whole genome sequencing of 31 isolates
G Arsenault-Labrecque, H Sonah, A Lebreton, C Labbé… - BMC biology, 2018 - Springer
Background The interaction between oomycete plant pathogen Phytophthora sojae and
soybean is characterized by the presence of avirulence (Avr) genes in P. sojae, which …
soybean is characterized by the presence of avirulence (Avr) genes in P. sojae, which …
[HTML][HTML] Incorporating genetic similarity of auxiliary samples into eGene identification under the transfer learning framework
Background The term eGene has been applied to define a gene whose expression level is
affected by at least one independent expression quantitative trait locus (eQTL). It is both …
affected by at least one independent expression quantitative trait locus (eQTL). It is both …
Investigation of prediction accuracy and the impact of sample size, ancestry, and tissue in transcriptome‐wide association studies
JJ Fryett, AP Morris, HJ Cordell - Genetic epidemiology, 2020 - Wiley Online Library
In transcriptome‐wide association studies (TWAS), gene expression values are predicted
using genotype data and tested for association with a phenotype. The power of this …
using genotype data and tested for association with a phenotype. The power of this …
[HTML][HTML] Predicting gene expression using DNA methylation in three human populations
Background DNA methylation, an important epigenetic mark, is well known for its regulatory
role in gene expression, especially the negative correlation in the promoter region …
role in gene expression, especially the negative correlation in the promoter region …
[HTML][HTML] Genomic effect of DNA methylation on gene expression in colorectal cancer
J Hong, JK Rhee - Biology, 2022 - mdpi.com
Simple Summary Abnormal DNA methylation is known to regulate gene expression, and its
features have been frequently observed in colorectal cancer (CRC) patients. In addition …
features have been frequently observed in colorectal cancer (CRC) patients. In addition …
[HTML][HTML] Multi-scale inference of genetic trait architecture using biologically annotated neural networks
In this article, we present Biologically Annotated Neural Networks (BANNs), a nonlinear
probabilistic framework for association mapping in genome-wide association (GWA) studies …
probabilistic framework for association mapping in genome-wide association (GWA) studies …