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Genome-Wide Association Study

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Pharmacogenomics and response to lithium in bipolar disorder.

Pharmacogenomics
AIMS: The present review explores the existing evidence on pharmacogenomic tests for prediction of lithium response in the treatment of bipolar disorder. We focused our research article on reports describing findings from genome-wide association stud...

[From AI to polygenic risk scores: which innovations will shape the future of psychiatry?].

Tijdschrift voor psychiatrie
BACKGROUND: In recent years, developments have been made in various research domains, from treatments with (es)ketamine to large-scale genome-wide association studies (GWAS).

Genetic association studies using disease liabilities from deep neural networks.

American journal of human genetics
The case-control study is a widely used method for investigating the genetic underpinnings of binary traits. However, long-term, prospective cohort studies often grapple with absent or evolving health-related outcomes. Here, we propose two methods, l...

Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder.

Translational psychiatry
Although the efficacy of pharmacy in the treatment of attention deficit/hyperactivity disorder (ADHD) has been well established, the lack of predictors of treatment response poses great challenges for personalized treatment. The current study employe...

MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.

Briefings in bioinformatics
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...

aurora: a machine learning gwas tool for analyzing microbial habitat adaptation.

Genome biology
A primary goal of microbial genome-wide association studies is identifying genomic variants associated with a particular habitat. Existing tools fail to identify known causal variants if the analyzed trait shaped the phylogeny. Furthermore, due to in...

Improving genetic variant identification for quantitative traits using ensemble learning-based approaches.

BMC genomics
BACKGROUND: Genome-wide association studies (GWAS) are rapidly advancing due to the improved resolution and completeness provided by Telomere-to-Telomere (T2T) and pangenome assemblies. While recent advancements in GWAS methods have primarily focused...

Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.

Genome biology
BACKGROUND: Genome-wide association studies (GWAS) have identified common variants associated with metabolic dysfunction-associated steatotic liver disease (MASLD). However, rare coding variant studies have been limited by phenotyping challenges and ...

Leveraging Automated Machine Learning for Environmental Data-Driven Genetic Analysis and Genomic Prediction in Maize Hybrids.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Genotype, environment, and genotype-by-environment (G×E) interactions play a critical role in shaping crop phenotypes. Here, a large-scale, multi-environment hybrid maize dataset is used to construct and validate an automated machine learning framewo...

Exploring the application of deep learning methods for polygenic risk score estimation.

Biomedical physics & engineering express
. Polygenic risk scores (PRS) summarise genetic information into a single number with clinical and research uses. Deep learning (DL) has revolutionised multiple fields, however, the impact of DL on PRSs has been less significant. We explore how DL ca...