AIMC Topic: Polymorphism, Genetic
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A machine learning approach for estimating Eastern Asian origins from massive screening of Y chromosomal short tandem repeats polymorphisms.
International journal of legal medicine
Jan 8, 2025
Inferring the ancestral origin of DNA evidence recovered from crime scenes is crucial in forensic investigations, especially in the absence of a direct suspect match. Ancestry informative markers (AIMs) have been widely researched and commercially de...
Machine learning approaches and genetic determinants that influence the development of type 2 diabetes mellitus: a genetic association study in Brazilian patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
Dec 2, 2024
This genetic association study including 120 patients with type 2 diabetes mellitus (T2DM) and 166 non-diabetic individuals aimed to investigate the association of polymorphisms in the genes GSTM1 and GSTT1 (gene deletion), GSTP1 (rs1695), ACE (rs464...
Risk Factors
Aged
Adult
Male
Middle Aged
Humans
Machine Learning
Female
Glutathione Transferase
Polymorphism, Genetic
Glutathione S-Transferase pi
Polymorphism, Single Nucleotide
Genotype
Genetic Association Studies
Vascular Endothelial Growth Factor A
Brazil
Case-Control Studies
Diabetes Mellitus, Type 2
Genetic Predisposition to Disease
Ancestry analysis using a self-developed 56 AIM-InDel loci and machine learning methods.
Forensic science international
May 21, 2024
Insertion/deletion (InDel) polymorphisms can be used as one of the ancestry-informative markers in ancestry analysis. In this study, a self-developed panel consisting of 56 ancestry-informative InDels was used to investigate the genetic structures an...
Artificial Intelligence-Assisted Meta-Analysis of the Frequency of ACE I/D Polymorphisms in Centenarians and Other Long-Lived Individuals.
International journal of molecular sciences
Feb 8, 2023
Current research on the angiotensin-converting-enzyme () gene has yielded controversial results on whether different polymorphisms are linked with human longevity. polymorphisms are a risk factor for Alzheimer's disease and age-onset diseases that ...
The application of machine learning to predict genetic relatedness using human mtDNA hypervariable region I sequences.
PloS one
Feb 18, 2022
Human identification of unknown samples following disaster and mass casualty events is essential, especially to bring closure to family and friends of the deceased. Unfortunately, victim identification is often challenging for forensic investigators ...
Machine-learning predicts genomic determinants of meiosis-driven structural variation in a eukaryotic pathogen.
Nature communications
Jun 10, 2021
Species harbor extensive structural variation underpinning recent adaptive evolution. However, the causality between genomic features and the induction of new rearrangements is poorly established. Here, we analyze a global set of telomere-to-telomere...
Genome-Wide Association Study
Crossing Over, Genetic
Genomics
Genes, Duplicate
Machine Learning
Sequence Inversion
Polymorphism, Single Nucleotide
INDEL Mutation
Computer Simulation
Models, Genetic
Chromosomes
Phylogeny
Pedigree
Arabidopsis
Meiosis
Retroelements
Eukaryota
Genome
Evolution, Molecular
Genetic Variation
Polymorphism, Genetic
Ascomycota
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.
Nature communications
Jun 2, 2021
Using the Cap Analysis of Gene Expression (CAGE) technology, the FANTOM5 consortium provided one of the most comprehensive maps of transcription start sites (TSSs) in several species. Strikingly, ~72% of them could not be assigned to a specific gene ...
Microsatellite Repeats
Transcription Initiation Site
Transcription Initiation, Genetic
Genome, Human
Polymorphism, Genetic
Promoter Regions, Genetic
Enhancer Elements, Genetic
A549 Cells
Neurodegenerative Diseases
High-Throughput Nucleotide Sequencing
Base Sequence
Humans
Deep Learning
Mice
Computational Biology
Neural Networks, Computer
Animals
Prediction of functional outcomes of schizophrenia with genetic biomarkers using a bagging ensemble machine learning method with feature selection.
Scientific reports
May 13, 2021
Genetic variants such as single nucleotide polymorphisms (SNPs) have been suggested as potential molecular biomarkers to predict the functional outcome of psychiatric disorders. To assess the schizophrenia' functional outcomes such as Quality of Life...
Transfer learning enables prediction of CYP2D6 haplotype function.
PLoS computational biology
Nov 2, 2020
Cytochrome P450 2D6 (CYP2D6) is a highly polymorphic gene whose protein product metabolizes more than 20% of clinically used drugs. Genetic variations in CYP2D6 are responsible for interindividual heterogeneity in drug response that can lead to drug ...
Estimating the Binding of Sars-CoV-2 Peptides to HLA Class I in Human Subpopulations Using Artificial Neural Networks.
Cell systems
Sep 10, 2020
Epidemiological studies show that SARS-CoV-2 infection leads to severe symptoms only in a fraction of patients, but the determinants of individual susceptibility to the virus are still unknown. The major histocompatibility complex (MHC) class I expos...
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