AIMC Topic: Polymorphism, Single Nucleotide

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Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.

Annals of the rheumatic diseases
OBJECTIVES: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to iden...

Expanding biobank pharmacogenomics through machine learning calls of structural variation.

Genetics
Biobanks linking genetic data with clinical health records provide exciting opportunities for pharmacogenomic (PGx) research on genetic variation and drug response. Designed as central and multiuse resources, biobanks can facilitate diverse PGx resea...

Genome-wide association study revealed candidate genes associated with egg-laying time traits in layer chicken.

Poultry science
In modern intensive caged laying hen production, variations in egg-laying time (ELT) among layers often increase the workload for egg collection, thereby raising the costs of labor or power and reducing overall efficiency. For management purpose, ear...

A flexible machine learning Mendelian randomization estimator applied to predict the safety and efficacy of sclerostin inhibition.

American journal of human genetics
Mendelian randomization (MR) enables the estimation of causal effects while controlling for unmeasured confounding factors. However, traditional MR's reliance on strong parametric assumptions can introduce bias if these are violated. We describe a ma...

Environment ensemble models for genomic prediction in common bean (Phaseolus vulgaris L.).

The plant genome
For important food crops such as the common bean (Phaseolus vulgaris, L.), global demand continues to outpace the rate of genetic gain for quantitative traits. In this study, we leveraged the multi-environment trial (MET) dataset from the cooperative...

Methylomes Reveal Recent Evolutionary Changes in Populations of Two Plant Species.

Genome biology and evolution
Plant DNA methylation changes occur hundreds to thousands of times faster than DNA mutations and can be transmitted transgenerationally, making them useful for studying population-scale patterns in clonal or selfing species. However, a state-of-the-a...

Endometrial tumorigenesis involves epigenetic plasticity demarcating non-coding somatic mutations and 3D-genome alterations.

Genome biology
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERα) for proliferation, but little is known about its transcriptional regulation in these tumors.

Mitochondrial mt12361A>G increased risk of metabolic dysfunction-associated steatotic liver disease among non-diabetes.

World journal of gastroenterology
BACKGROUND: Insulin resistance, lipotoxicity, and mitochondrial dysfunction contribute to the pathogenesis of metabolic dysfunction-associated steatotic liver disease (MASLD). Mitochondrial dysfunction impairs oxidative phosphorylation and increases ...

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...

Integration of machine learning and genome-wide association study to explore the genomic prediction accuracy of agronomic trait in oats (Avena sativa L.).

The plant genome
Machine learning (ML) has garnered significant attention for its potential to enhance the accuracy of genomic predictions (GPs) in various economic crops with the use of complete genomic information. Genome-wide association studies (GWAS) are widely ...