AIMC Topic: Genetic Variation

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Artificial intelligence enables unified analysis of historical and landscape influences on genetic diversity.

Molecular phylogenetics and evolution Jun 12, 2024
While genetic variation in any species is potentially shaped by a range of processes, phylogeography and landscape genetics are largely concerned with inferring how environmental conditions and landscape features impact neutral intraspecific diversit...
Animals Brazil Polymorphism, Single Nucleotide Artificial Intelligence Anura Phylogeography Models, Genetic Genetics, Population Genetic Variation
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Nature genetics Jun 11, 2024
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in electronic health records captures disea...
Coronary Artery Disease Genetic Variation Exome Sequencing Genetic Predisposition to Disease Polymorphism, Single Nucleotide Humans Exome Female Genome-Wide Association Study Machine Learning
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TSVM: Transfer Support Vector Machine for Predicting MPRA Validated Regulatory Variants.

IEEE/ACM transactions on computational biology and bioinformatics Jun 5, 2024
Genome-wide association studies have shown that common genetic variants associated with complex diseases are mostly located in non-coding regions, which may not be causal. In addition, the limited number of validated non-coding functional variants ma...
Genome-Wide Association Study Computational Biology Support Vector Machine Humans Algorithms Genetic Variation
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WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

PloS one May 17, 2024
BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Asso...
Deep Learning Genetic Variation Copper-Transporting ATPases Hepatolenticular Degeneration High-Throughput Nucleotide Sequencing Humans Algorithms
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Deep learning the cis-regulatory code for gene expression in selected model plants.

Nature communications Apr 25, 2024
Elucidating the relationship between non-coding regulatory element sequences and gene expression is crucial for understanding gene regulation and genetic variation. We explored this link with the training of interpretable deep learning models predict...
Species Specificity Genome, Plant Solanum lycopersicum Deep Learning Arabidopsis Genetic Variation Gene Expression Regulation, Plant Zea mays Regulatory Sequences, Nucleic Acid Sorghum
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Machine Learning of Three-Dimensional Protein Structures to Predict the Functional Impacts of Genome Variation.

Journal of chemical information and modeling Apr 18, 2024
Research in the human genome sciences generates a substantial amount of genetic data for hundreds of thousands of individuals, which concomitantly increases the number of variants of unknown significance (VUS). Bioinformatic analyses can successfully...
Genetic Variation Genome, Human NF-E2-Related Factor 2 Proto-Oncogene Proteins c-myc Protein Conformation Computational Biology Humans Models, Molecular Machine Learning
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Personal transcriptome variation is poorly explained by current genomic deep learning models.

Nature genetics Nov 30, 2023
Genomic deep learning models can predict genome-wide epigenetic features and gene expression levels directly from DNA sequence. While current models perform well at predicting gene expression levels across genes in different cell types from the refer...
Transcriptome Humans Deep Learning Genetic Variation Genomics Genome
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Predicting pathogenic protein variants.

Science (New York, N.Y.) Sep 19, 2023
Machine-learning algorithm uses structure prediction to spot disease-causing mutations.
Protein Conformation Machine Learning Mutant Proteins Sequence Analysis, DNA Algorithms Genetic Variation Disease Mutation, Missense
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Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.

Proceedings of the National Academy of Sciences of the United States of America Aug 21, 2023
Genetic association studies have identified hundreds of independent signals associated with type 2 diabetes (T2D) and related traits. Despite these successes, the identification of specific causal variants underlying a genetic association signal rema...
Genetic Variation Deep Learning Islets of Langerhans Humans Enhancer Elements, Genetic Computer Simulation Diabetes Mellitus, Type 2
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Sampling effect in predicting the evolutionary response of populations to climate change.

Molecular ecology resources Jun 30, 2023
Genomic data and machine learning approaches have gained interest due to their potential to identify adaptive genetic variation across populations and to assess species vulnerability to climate change. By identifying gene-environment associations for...
Genetic Variation Climate Change Genetics, Population Polymorphism, Single Nucleotide
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