AIMC Topic: Genetic Testing

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Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

European journal of preventive cardiology Feb 4, 2020
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...
Humans Machine Learning Female Risk Factors Male Mutation Genetic Testing Hyperlipoproteinemia Type II DNA Mutational Analysis Heterozygote Virtual Reality ROC Curve Lipids DNA
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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...
Genetic Testing Workflow Genetic Variation Linear Models Humans Neoplasms Databases, Factual Neural Networks, Computer Genomics Machine Learning Reproducibility of Results Mutation Algorithms
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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...
Abnormalities, Multiple Genotype Neonatal Screening Humans Genetic Counseling Diagnosis, Differential Phenotype Terminology as Topic Genetics, Medical Genetic Testing Infant, Newborn Genome, Human Genetic Variation Genomics
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Application of Single-Nucleotide Polymorphisms in the Diagnosis of Autism Spectrum Disorders: A Preliminary Study with Artificial Neural Networks.

Journal of molecular neuroscience : MN Apr 1, 2019
Autism spectrum disorder (ASD) includes different neurodevelopmental disorders characterized by deficits in social communication, and restricted, repetitive patterns of behavior, interests or activities. Based on the importance of early diagnosis for...
Humans Autism Spectrum Disorder Female Sensitivity and Specificity Genetic Testing Male Receptors, GABA-A Deep Learning Receptors, Metabotropic Glutamate Child Synaptosomal-Associated Protein 25 Polymorphism, Single Nucleotide
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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...
Phenotype Genomics Genotype Computational Biology Mutation Humans Machine Learning Software Exome Genetic Testing Genetic Variation High-Throughput Nucleotide Sequencing Rare Diseases
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Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination.

PloS one Dec 5, 2018
With the advance of next-generation sequencing (NGS) technologies, non-invasive prenatal testing (NIPT) has been developed and employed in fetal aneuploidy screening on 13-/18-/21-trisomies through detecting cell-free fetal DNA (cffDNA) in maternal b...
Pregnancy Female Young Adult Adult Sequence Analysis, DNA Diagnosis, Differential Genetic Testing Diagnosis, Computer-Assisted Support Vector Machine Humans Machine Learning Retrospective Studies Prenatal Diagnosis Trisomy 13 Syndrome High-Throughput Nucleotide Sequencing Trisomy 18 Syndrome Down Syndrome False Negative Reactions False Positive Reactions
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Quantitative nuclear histomorphometry predicts oncotype DX risk categories for early stage ER+ breast cancer.

BMC cancer May 30, 2018
BACKGROUND: Gene-expression companion diagnostic tests, such as the Oncotype DX test, assess the risk of early stage Estrogen receptor (ER) positive (+) breast cancers, and guide clinicians in the decision of whether or not to use chemotherapy. Howev...
Receptors, Estrogen Humans Prognosis Female Staining and Labeling Predictive Value of Tests Principal Component Analysis Neoplasm Staging Models, Biological Supervised Machine Learning Cell Nucleus Genetic Testing Breast Breast Neoplasms Middle Aged Risk Factors ROC Curve Aged Image Processing, Computer-Assisted Young Adult Adult
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WorMachine: machine learning-based phenotypic analysis tool for worms.

BMC biology Jan 16, 2018
BACKGROUND: Caenorhabditis elegans nematodes are powerful model organisms, yet quantification of visible phenotypes is still often labor-intensive, biased, and error-prone. We developed WorMachine, a three-step MATLAB-based image analysis software th...
Female Animals Male Genetic Testing Machine Learning Phenotype Optical Imaging Caenorhabditis elegans
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[The potential of artificial intelligence in myology: a viewpoint from a non-robot].

Medecine sciences : M/S Nov 15, 2017
Muscular Diseases Inventions Precision Medicine Medical Record Linkage Sequence Analysis, DNA Humans History, 20th Century Genetic Testing Muscles Artificial Intelligence High-Throughput Nucleotide Sequencing Databases, Factual History, 21st Century
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Automated Detection of Cancer Associated Genes Using a Combined Fuzzy-Rough-Set-Based F-Information and Water Swirl Algorithm of Human Gene Expression Data.

PloS one Dec 9, 2016
This study describes a novel approach to reducing the challenges of highly nonlinear multiclass gene expression values for cancer diagnosis. To build a fruitful system for cancer diagnosis, in this study, we introduced two levels of gene selection su...
Gene Expression Regulation, Neoplastic Fuzzy Logic Genetic Testing Monte Carlo Method Neoplasms Oligonucleotide Array Sequence Analysis Gene Expression Profiling Humans ROC Curve Algorithms Genetic Predisposition to Disease Reproducibility of Results
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