AIMC Topic: Genetic Testing

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EHR based Genetic Testing Knowledge Base (iGTKB) Development.

BMC medical informatics and decision making Nov 25, 2015
BACKGROUND: The gap between a large growing number of genetic tests and a suboptimal clinical workflow of incorporating these tests into regular clinical practice poses barriers to effective reliance on advanced genetic technologies to improve qualit...
Electronic Health Records Humans Genetic Testing Knowledge Bases Program Development
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Multiple Testing of Gene Sets from Gene Ontology: Possibilities and Pitfalls.

Briefings in bioinformatics Oct 7, 2015
The use of multiple testing procedures in the context of gene-set testing is an important but relatively underexposed topic. If a multiple testing method is used, this is usually a standard familywise error rate (FWER) or false discovery rate (FDR) c...
Genetic Testing Gene Ontology Humans
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Prediction of core cancer genes using a hybrid of feature selection and machine learning methods.

Genetics and molecular research : GMR Aug 3, 2015
Machine learning techniques are of great importance in the analysis of microarray expression data, and provide a systematic and promising way to predict core cancer genes. In this study, a hybrid strategy was introduced based on machine learning tech...
Databases, Genetic Predictive Value of Tests Humans Genetic Testing Machine Learning Algorithms Microarray Analysis Neoplasms Statistics as Topic Models, Genetic
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[Prophylactic surgery and genetic counselling: What impact of the artificial intelligence?].

Bulletin du cancer Mar 1, 2025
In the area of cancer predisposition, certain situations may lead to the discussion of prophylactic surgery. This is rarely strictly recommended and depends on the patient's choice. The advantages and disadvantages must be weighed up. The main advant...
Humans Artificial Intelligence Genetic Predisposition to Disease Genetic Counseling Breast Neoplasms Genetic Testing Prophylactic Surgical Procedures Neoplasms
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Could metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A certain clinical need.

Reproduction, fertility, and development Jan 1, 2025
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate rep...
Aneuploidy Preimplantation Diagnosis Pregnancy Female Humans Genetic Testing Artificial Intelligence
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What Legal Frameworks Should Govern Use of Genetic Test Results by Private Health Insurers in New Zealand?

Journal of law and medicine Dec 1, 2023
The rising cost of private health insurance and constraints within public health systems are global concerns. Genetic testing presents a transformative opportunity for health care to enhance health outcomes and optimise resource allocation through pe...
Insurance, Health Genetic Testing Artificial Intelligence Insurance Carriers New Zealand
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Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.

JAMA Nov 17, 2020
IMPORTANCE: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.
Sensitivity and Specificity Predictive Value of Tests Cross-Sectional Studies Humans Prostatic Neoplasms Male Genetic Testing Neural Networks, Computer High-Throughput Nucleotide Sequencing DNA Mutational Analysis Female Middle Aged Germ-Line Mutation Melanoma Deep Learning Genetic Predisposition to Disease
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Bioinformatics, Sequencing Accuracy, and the Credibility of Clinical Genomics.

JAMA Nov 17, 2020
Genomics Computational Biology Prostatic Neoplasms Melanoma Genetic Testing Male Reference Standards Humans Deep Learning
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Validity of Natural Language Processing for Ascertainment of and Test Results in SEER Cases of Stage IV Non-Small-Cell Lung Cancer.

JCO clinical cancer informatics May 1, 2019
PURPOSE: SEER registries do not report results of epidermal growth factor receptor () and anaplastic lymphoma kinase () mutation tests. To facilitate population-based research in molecularly defined subgroups of non-small-cell lung cancer (NSCLC), we...
Genetic Testing SEER Program DNA Mutational Analysis Anaplastic Lymphoma Kinase Kentucky ErbB Receptors Natural Language Processing Mutation Registries Lung Neoplasms Carcinoma, Non-Small-Cell Lung Population Surveillance Algorithms Female Reproducibility of Results Male Middle Aged Aged Humans Adult Machine Learning
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Machine-Assisted Genotype Update System (MAGUS) for Inherited Cardiomyopathies.

Circulation. Cardiovascular quality and outcomes Oct 1, 2018
Computational Biology Humans Predictive Value of Tests Machine Learning Genetic Testing High-Throughput Nucleotide Sequencing Heredity Risk Factors Pedigree Risk Assessment Data Mining Cardiomyopathy, Dilated Genetic Predisposition to Disease Genetic Variation Arrhythmogenic Right Ventricular Dysplasia Cardiomyopathy, Hypertrophic, Familial Phenotype Prognosis Reproducibility of Results
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