AIMC Topic: Genome, Human

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Genome analysis through image processing with deep learning models.

Journal of human genetics Jul 31, 2024
Genomic sequences are traditionally represented as strings of characters: A (adenine), C (cytosine), G (guanine), and T (thymine). However, an alternative approach involves depicting sequence-related information through image representations, such as...
Humans Deep Learning Genome, Human Image Processing, Computer-Assisted Genomics
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INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome.

HGG advances Jul 10, 2024
Small insertions and deletions (indels) are critical yet challenging genetic variations with significant clinical implications. However, the identification of pathogenic indels from neutral variants in clinical contexts remains an understudied proble...
Machine Learning Software Computational Biology Genome, Human Gene Frequency Genomics INDEL Mutation Humans
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Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks.

Journal of translational medicine Jul 3, 2024
BACKGROUND: Cell free DNA (cfDNA)-based assays hold great potential in detecting early cancer signals yet determining the tissue-of-origin (TOO) for cancer signals remains a challenging task. Here, we investigated the contribution of a methylation at...
Humans Neural Networks, Computer Algorithms Cell-Free Nucleic Acids Genome, Human Organ Specificity Neoplasms DNA Methylation
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Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

BMC genomics May 14, 2024
BACKGROUND: The absence of heterozygosity (AOH) is a kind of genomic change characterized by a long contiguous region of homozygous alleles in a chromosome, which may cause human genetic disorders. However, no method of low-pass whole genome sequenci...
Humans Neural Networks, Computer Polymorphism, Single Nucleotide Loss of Heterozygosity Whole Genome Sequencing Genome, Human
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On Minimizers and Convolutional Filters: Theoretical Connections and Applications to Genome Analysis.

Journal of computational biology : a journal of computational molecular cell biology Apr 30, 2024
Neural Networks, Computer COVID-19 SARS-CoV-2 Deep Learning Algorithms Humans Genome, Human Telomere Genomics Computational Biology
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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...
Proto-Oncogene Proteins c-myc Protein Conformation NF-E2-Related Factor 2 Machine Learning Humans Computational Biology Genetic Variation Models, Molecular Genome, Human
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Simplified detection of genetic background admixture using artificial intelligence.

Clinical genetics Apr 1, 2024
Admixture refers to the mixing of genetic ancestry from different populations. Admixture is important for genomic medicine because it can affect how an individual responds to certain medications, how they metabolize drugs, and susceptibility to certa...
Genetic Background Genetics, Population Neural Networks, Computer Artificial Intelligence Genomics Genome, Human Software Humans
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An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.

Human genetics Mar 23, 2024
Identifying disease-causing variants in Rare Disease patients' genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called "Suggested Diagnosis", whose aim is to prioritize genetic variants in an...
Exome Genome, Human Humans Genetic Diseases, Inborn Genetic Predisposition to Disease Phenotype Artificial Intelligence Genotype Genomics Genetic Testing Machine Learning
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology.

Journal of human genetics Jan 15, 2024
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies and conducting subsequent fine-mapping. Recently, several deep learning-based genotype imputation me...
Polymorphism, Single Nucleotide Genome-Wide Association Study Linkage Disequilibrium Genotype Humans Genome, Human Genomics Deep Learning
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MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach.

Genome medicine Jan 8, 2024
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants....
Machine Learning Genome, Human Humans
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