AIMC Topic: Genetic Variation
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Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.
Molecular systems biology
Sep 16, 2024
Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we r...
Predicting structure-targeted food bioactive compounds for middle-aged and elderly Asians with myocardial infarction: insights from genetic variations and bioinformatics-integrated deep learning analysis.
Food & function
Sep 16, 2024
Myocardial infarction (MI) is a significant global health issue. Despite the advances in genome-wide association studies, a complete genetic and molecular understanding of MI is elusive and needs to be fully explored. This study aimed to elucidate th...
The impacts of positive selection on genomic variation in Drosophila serrata: Insights from a deep learning approach.
Molecular ecology
Aug 26, 2024
This study explores the impact of positive selection on the genetic composition of a Drosophila serrata population in eastern Australia through a comprehensive analysis of 110 whole genome sequences. Utilizing an advanced deep learning algorithm (par...
Artificial intelligence in plant breeding.
Trends in genetics : TIG
Aug 7, 2024
Harnessing cutting-edge technologies to enhance crop productivity is a pivotal goal in modern plant breeding. Artificial intelligence (AI) is renowned for its prowess in big data analysis and pattern recognition, and is revolutionizing numerous scien...
Machine learning-based classification reveals distinct clusters of non-coding genomic allelic variations associated with Erm-mediated antibiotic resistance.
mSystems
Jul 2, 2024
UNLABELLED: The erythromycin resistance RNA methyltransferase () confers cross-resistance to all therapeutically important macrolides, lincosamides, and streptogramins (MLS phenotype). The expression of is often induced by the macrolide-mediated rib...
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...
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...
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...
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 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...
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