AIMC Topic: Genetic Variation

Clear Filters Showing 61 to 70 of 130 articles

Ranking of non-coding pathogenic variants and putative essential regions of the human genome.

Nature communications Nov 20, 2019
A gene is considered essential if loss of function results in loss of viability, fitness or in disease. This concept is well established for coding genes; however, non-coding regions are thought less likely to be determinants of critical functions. H...
Enhancer Elements, Genetic Genes, Reporter Chromatin Gene Expression Mutation Supervised Machine Learning Genetic Variation Genome, Human Nucleic Acid Conformation Introns INDEL Mutation Humans Computer Simulation DNA
View on PubMed DOI

CPEM: Accurate cancer type classification based on somatic alterations using an ensemble of a random forest and a deep neural network.

Scientific reports Nov 15, 2019
With recent advances in DNA sequencing technologies, fast acquisition of large-scale genomic data has become commonplace. For cancer studies, in particular, there is an increasing need for the classification of cancer type based on somatic alteration...
Neural Networks, Computer Machine Learning Algorithms Databases, Factual Humans Genetic Testing Workflow Genetic Variation Linear Models Reproducibility of Results Neoplasms Genomics Mutation
View on PubMed DOI

Dysmorphology in a Genomic Era.

Clinics in perinatology Oct 31, 2019
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
Genomics Genetic Variation Genotype Abnormalities, Multiple Diagnosis, Differential Humans Genome, Human Genetic Counseling Genetic Testing Phenotype Neonatal Screening Genetics, Medical Infant, Newborn Terminology as Topic
View on PubMed DOI

Artificial intelligence reveals environmental constraints on colour diversity in insects.

Nature communications Oct 7, 2019
Explaining colour variation among animals at broad geographic scales remains challenging. Here we demonstrate how deep learning-a form of artificial intelligence-can reveal subtle but robust patterns of colour feature variation along an ecological gr...
Artificial Intelligence Color Biodiversity Genetic Variation Insecta Temperature Animals Phylogeny Deep Learning Moths Climate Altitude Species Specificity Skin Pigmentation
View on PubMed DOI

Designing Eukaryotic Gene Expression Regulation Using Machine Learning.

Trends in biotechnology Aug 17, 2019
Controlling the expression of genes is one of the key challenges of synthetic biology. Until recently fine-tuned control has been out of reach, particularly in eukaryotes owing to their complexity of gene regulation. With advances in machine learning...
Eukaryota Genetic Engineering Eukaryotic Cells Flow Cytometry Genetic Variation Synthetic Biology Gene Expression Regulation Machine Learning Algorithms Models, Genetic
View on PubMed DOI

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 ...
Genome, Human Selection, Genetic Genetics, Population Inheritance Patterns Genetic Fitness Models, Genetic Alleles Humans Genetic Variation Machine Learning Base Sequence Autism Spectrum Disorder Neoplasms Genomics Polymorphism, Single Nucleotide Proteome
View on PubMed DOI

Beyond multidrug resistance: Leveraging rare variants with machine and statistical learning models in Mycobacterium tuberculosis resistance prediction.

EBioMedicine Apr 29, 2019
BACKGROUND: The diagnosis of multidrug resistant and extensively drug resistant tuberculosis is a global health priority. Whole genome sequencing of clinical Mycobacterium tuberculosis isolates promises to circumvent the long wait times and limited s...
Genetic Variation Mycobacterium tuberculosis Genome, Bacterial Extensively Drug-Resistant Tuberculosis Models, Statistical Prognosis Genomics Humans Evolution, Molecular Reproducibility of Results Computational Biology Antitubercular Agents Machine Learning Microbial Sensitivity Tests Databases, Genetic Tuberculosis, Multidrug-Resistant ROC Curve Cluster Analysis
View on PubMed DOI

MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.

Genome biology Mar 1, 2019
Predicting the effects of genetic variants on splicing is highly relevant for human genetics. We describe the framework MMSplice (modular modeling of splicing) with which we built the winning model of the CAGI5 exon skipping prediction challenge. The...
Genetic Diseases, Inborn Alternative Splicing Neural Networks, Computer Models, Genetic Genetic Variation
View on PubMed DOI

DeepPVP: phenotype-based prioritization of causative variants using deep learning.

BMC bioinformatics Feb 6, 2019
BACKGROUND: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity ...
Humans Exome Deep Learning Neural Networks, Computer Genetic Variation Software Gene Frequency Phenotype Exome Sequencing
View on PubMed DOI

Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics Jan 24, 2019
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision...
Genotype Computational Biology Mutation Humans Genetic Variation Machine Learning Genetic Testing High-Throughput Nucleotide Sequencing Software Rare Diseases Phenotype Exome Genomics
View on PubMed DOI
Popular Topics
Recent Journals