AIMC Topic: Polymorphism, Single Nucleotide
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Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
American journal of human genetics
Sep 12, 2024
Large-scale, multi-ethnic whole-genome sequencing (WGS) studies, such as the National Human Genome Research Institute Genome Sequencing Program's Centers for Common Disease Genomics (CCDG), play an important role in increasing diversity for genetic r...
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.
Human genomics
Sep 11, 2024
Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in oncology. L...
Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.
Nature genetics
Sep 11, 2024
The emergence of biobank-level datasets offers new opportunities to discover novel biomarkers and develop predictive algorithms for human disease. Here, we present an ensemble machine-learning framework (machine learning with phenotype associations, ...
Exploring genomic feature selection: A comparative analysis of GWAS and machine learning algorithms in a large-scale soybean dataset.
The plant genome
Sep 10, 2024
The surge in high-throughput technologies has empowered the acquisition of vast genomic datasets, prompting the search for genetic markers and biomarkers relevant to complex traits. However, grappling with the inherent complexities of high dimensiona...
What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients.
Progress in orthodontics
Aug 26, 2024
BACKGROUND: Hypodontia is the most prevalent dental anomaly in humans, and is primarily attributed to genetic factors. Although genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNP) associated with hypodontia, g...
Estimation of spatial demographic maps from polymorphism data using a neural network.
Molecular ecology resources
Aug 16, 2024
A fundamental goal in population genetics is to understand how variation is arrayed over natural landscapes. From first principles we know that common features such as heterogeneous population densities and barriers to dispersal should shape genetic ...
Characterizing feral swine movement across the contiguous United States using neural networks and genetic data.
Molecular ecology
Aug 15, 2024
Globalization has led to the frequent movement of species out of their native habitat. Some of these species become highly invasive and capable of profoundly altering invaded ecosystems. Feral swine (Sus scrofa × domesticus) are recognized as being a...
A Secure High-Order Gene Interaction Detection Algorithm Based on Deep Neural Network.
IEEE/ACM transactions on computational biology and bioinformatics
Aug 9, 2024
Identifying high-order Single Nucleotide Polymorphism (SNP) interactions of additive genetic model is crucial for detecting complex disease gene-type and predicting pathogenic genes of various disorders. We present a novel framework for high-order ge...
A comprehensive multi-task deep learning approach for predicting metabolic syndrome with genetic, nutritional, and clinical data.
Scientific reports
Aug 1, 2024
Metabolic syndrome (MetS) is a complex disorder characterized by a cluster of metabolic abnormalities, including abdominal obesity, hypertension, elevated triglycerides, reduced high-density lipoprotein cholesterol, and impaired glucose tolerance. It...
Machine learning uncovers manganese as a key nutrient associated with reduced risk of steatotic liver disease.
Liver international : official journal of the International Association for the Study of the Liver
Jul 31, 2024
BACKGROUND: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects approximately 20%-30% of the general population and is linked to high-caloric western style diet. However, there are little data that specific nutrients might help t...
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