AIMC Topic: Genome-Wide Association Study

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Multi-omics reveal critical roles of phosphatidylcholine and sphingomyelin in antipsychotic efficacy for schizophrenia.

Signal transduction and targeted therapy
Nearly 30% of patients with schizophrenia respond inadequately to current antipsychotics, with unclear markers and mechanisms of antipsychotic efficacy. A total of 208 patients with schizophrenia treated for 6 weeks with oral paliperidone were analyz...

Potential synthetic associations created by epistasis.

Genome biology
The prevalence of synthetic associations in GWAS, where non-causal variants become significant by tagging multiple undetected causal variants and not necessarily in strong linkage disequilibrium with any single one, remains unexplored. We introduce a...

Recent advances in breeding systems and their improvement in forage crops.

Molecular biology reports
Fodder crops are crops which are mainly grown as feed for livestocks and it consist of a variety of crops ranging from annual to perennial crops. Even with many crops involved, advance crop improvement practices are done less in these crops. With the...

Immune metabolic changes identify causal candidate genes and enable diagnostic frameworks in MAFLD.

Scientific reports
Metabolic dysfunction-associated fatty liver disease (MAFLD), a global epidemic affecting 25% of adults, is driven by immune-metabolic dysregulation, yet the causal mechanisms linking immune cell-specific gene perturbations to disease progression rem...

Foliar disease resistance phenomics of fungal pathogens: image-based approaches for mapping quantitative resistance in cereal germplasm.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Host plant resistance is the most effective and environmentally sustainable means of reducing yield losses caused by fungal foliar pathogens of cereal species. Cereal genebank collections hold diverse pools of potentially underutilized disease resist...

Machine learning based on pangenome-wide association studies reveals the impact of host source on the zoonotic potential of closely related bacterial pathogens.

Communications biology
Variations in host species significantly impact bacterial growth traits and antibiotic resistance, making it essential to consider host origin when evaluating the zoonotic potential of pathogens. This study focuses on multiple Brucella species, which...

Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese.

Nature communications
A substantial portion of lung cancer-associated genetic elements in East Asian populations remains unidentified, underscoring the need for large-scale genome-wide studies, particularly on non-coding regulation. We conducted a whole genome sequencing ...

varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction.

Genome medicine
BACKGROUND: Machine learning and artificial intelligence are increasingly being applied to identify phenotypically causal genetic variation. These data-driven methods require comprehensive training sets to deliver reliable results. However, large unb...

Genetic analyses of eight complex diseases using predicted continuous representations of disease.

Cell reports methods
We evaluated whether predicted continuous disease representations could enhance genetic discovery beyond case-control genome-wide association study (GWAS) phenotypes across eight complex diseases in up to 485,448 UK Biobank participants. Predicted ph...

Machine learning in Alzheimer's disease genetics.

Nature communications
Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest Europe...