AIMC Topic: Alleles

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Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population.

The British journal of oral & maxillofacial surgery Aug 28, 2020
Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VD...
Genotype Humans Alleles Vitamin D Case-Control Studies Receptors, Calcitriol Genetic Predisposition to Disease Temporomandibular Joint Disorders
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IConMHC: a deep learning convolutional neural network model to predict peptide and MHC-I binding affinity.

Immunogenetics Jun 24, 2020
Tumor-specific neoantigens are mutated self-peptides presented by tumor cell major histocompatibility complex (MHC) molecules and are necessary to elicit host's anti-cancer cytotoxic T cell responses. It could be specifically recognized by neoantigen...
Humans Neural Networks, Computer Computer Simulation Reproducibility of Results Databases, Protein Alleles Histocompatibility Antigens Class I Amino Acid Sequence Peptides Deep Learning Protein Binding Antigens, Neoplasm
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Prediction of peptide binding to MHC using machine learning with sequence and structure-based feature sets.

Biochimica et biophysica acta. General subjects Jan 16, 2020
Selecting peptides that bind strongly to the major histocompatibility complex (MHC) for inclusion in a vaccine has therapeutic potential for infections and tumors. Machine learning models trained on sequence data exist for peptide:MHC (p:MHC) binding...
Histocompatibility Antigens Class I Machine Learning Amino Acid Sequence Peptides Protein Conformation Algorithms Protein Binding Animals Mice Alleles
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ImaGene: a convolutional neural network to quantify natural selection from genomic data.

BMC bioinformatics Nov 22, 2019
BACKGROUND: The genetic bases of many complex phenotypes are still largely unknown, mostly due to the polygenic nature of the traits and the small effect of each associated mutation. An alternative approach to classic association studies to determini...
Humans Neural Networks, Computer Software Algorithms Databases, Genetic Phenotype Alleles Genomics Selection, Genetic Genetics, Population
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Forensic STR allele extraction using a machine learning paradigm.

Forensic science international. Genetics Oct 28, 2019
We present a machine learning approach to short tandem repeat (STR) sequence detection and extraction from massively parallel sequencing data called Fragsifier. Using this approach, STRs are detected on each read by first locating the longest repeat ...
DNA Fingerprinting Genotype Alleles Genetic Loci Electrophoresis, Capillary High-Throughput Nucleotide Sequencing Microsatellite Repeats Forensic Genetics Humans Machine Learning Algorithms
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DeepTetrad: high-throughput image analysis of meiotic tetrads by deep learning in Arabidopsis thaliana.

The Plant journal : for cell and molecular biology Oct 22, 2019
Meiotic crossovers facilitate chromosome segregation and create new combinations of alleles in gametes. Crossover frequency varies along chromosomes and crossover interference limits the coincidence of closely spaced crossovers. Crossovers can be mea...
Transgenes Meiosis Arabidopsis Proteins Arabidopsis Deep Learning Alleles Crossing Over, Genetic Pollen Homologous Recombination Chromosome Segregation Chromosomes, Plant
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Automated estimation of the number of contributors in autosomal short tandem repeat profiles using a machine learning approach.

Forensic science international. Genetics Aug 23, 2019
The number of contributors (NOC) to (complex) autosomal STR profiles cannot be determined with absolute certainty due to complicating factors such as allele sharing and allelic drop-out. The precision of NOC estimations can be improved by increasing ...
DNA Degradation, Necrotic Gene Frequency Microsatellite Repeats DNA Fingerprinting Humans Machine Learning Algorithms DNA Alleles
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Developmental validation of PACE™: Automated artifact identification and contributor estimation for use with GlobalFiler™ and PowerPlex® fusion 6c generated data.

Forensic science international. Genetics Aug 8, 2019
DNA mixture interpretation remains one of the major challenges in forensic DNA analysis. DNA mixture samples are inherently complex due to several factors including the variations in the quantity of DNA, the presence of non-allelic artifactual peaks ...
Artifacts Polymerase Chain Reaction DNA Fingerprinting Algorithms Models, Statistical Humans DNA Machine Learning Alleles
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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.

Scientific reports Jul 17, 2019
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machin...
Models, Genetic Decision Trees Area Under Curve Crohn Disease Alleles Nonlinear Dynamics Genotyping Techniques Genetic Predisposition to Disease Deep Learning Humans Polymorphism, Single Nucleotide Genome-Wide Association Study INDEL Mutation Neural Networks, Computer Genotype ROC Curve Female Logistic Models Male
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Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease.

Genome research Jun 27, 2019
A central challenge in human genomics is to understand the cellular, evolutionary, and clinical significance of genetic variants. Here, we introduce a unified population-genetic and machine-learning model, called inear llele-pecific election nferenc ...
Genetic Variation Base Sequence Genome, Human Selection, Genetic Proteome Humans Models, Genetic Autism Spectrum Disorder Genetics, Population Machine Learning Neoplasms Alleles Genomics Inheritance Patterns Polymorphism, Single Nucleotide Genetic Fitness
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