AIMC Topic: Polymorphism, Single Nucleotide

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Multiple polygenic score approach in colorectal cancer risk prediction.

Scientific reports
Recent studies have demonstrated that for various diseases, incorporating polygenic risk scores (PRSs) for other traits and diseases into the PRS-based risk prediction model may improve predictive performance - known as Multiple Polygenic Score (MPS)...

Common genetic variation influencing the human lung imaging phenotypes.

Nature communications
Lung structures are critical for gas exchange and contribute to the pathogenesis of respiratory diseases, exhibiting notable lobe-specific heterogeneity. To investigate their genetic basis, we apply a deep-learning AI system and Pyradiomics to define...

A comparative study highlights superiority of LSTM in crop genomic prediction.

Planta
We systematically evaluated three key determinants affecting prediction accuracy and the algorithm performance differences based on fifteen state-of-the-art GP methods, and found LSTM suitable for capturing additive and epistatic effects. Genomic pre...

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...

Genomic Identification and Validation of Candidate Genes Associated with Alkalinity Tolerance in Exopalaemon carinicauda.

Marine biotechnology (New York, N.Y.)
China harbors extensive saline-alkaline water resources with considerable potential for aquaculture development. However, their utilization is constrained by high pH, elevated carbonate alkalinity, and complex ionic composition. Exopalaemon carinicau...

An interpretable generative multimodal neuroimaging-genomics framework for decoding Alzheimer's disease.

Journal of neural engineering
Alzheimer's disease (AD) is the most prevalent form of dementia worldwide, encompassing a prodromal stage known as mild cognitive impairment (MCI), where patients may either progress to AD or remain stable. The objective of the work was to capture st...

Unravelling mutation patterns in Extended-Spectrum β-Lactamases for precision drug design against AMR in Enterobacteriaceae.

Molecular genetics and genomics : MGG
Antimicrobial resistance (AMR) presents a critical global challenge, causing over 1.27 million deaths annually, with projections reaching 10 million by 2050. Among the most concerning contributors are Enterobacteriaceae, particularly Escherichia coli...

Prediction of protein structural changes mediated by NS-SNPs in antibiotic resistance determinants in Streptococcus pneumoniae.

Archives of microbiology
Streptococcus pneumoniae (S. pneumoniae) is a gram-positive bacterium, which is a human pathogen that colonises the human nasopharyngeal region. The evolution of its resistance to many antibiotics has become a major clinical and public health problem...

Discovery of CRISPR-Cas12a clades using a large language model.

Nature communications
CRISPR-Cas systems revolutionize life science. Metagenomes contain millions of unknown Cas proteins. Traditional mining relies on protein sequence alignments. In this work, we employ an evolutionary scale language model (ESM) to learn the information...