AIMC Topic: Genetic Testing
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Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.
Circulation. Genomic and precision medicine
Apr 23, 2021
BACKGROUND: Genetic testing can determine family screening strategies and has prognostic and diagnostic value in hypertrophic cardiomyopathy (HCM). However, it can also pose a significant psychosocial burden. Conventional scoring systems offer modest...
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning.
Med (New York, N.Y.)
Mar 11, 2021
BACKGROUND: Although the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant interpretation are used widely in clinical genetics, there is room for improvement of these knowledge-bas...
Integrated Learning: Screening Optimal Biomarkers for Identifying Preeclampsia in Placental mRNA Samples.
Computational and mathematical methods in medicine
Feb 23, 2021
Preeclampsia (PE) is a maternal disease that causes maternal and child death. Treatment and preventive measures are not sound enough. The problem of PE screening has attracted much attention. The purpose of this study is to screen placental mRNA to o...
Towards the selection of embryos with the greatest implantation potential.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Jan 12, 2021
Choosing the most suitable embryo remains challenging as the standard approach to select top-quality embryos for transfer rely on static morphological assessment. It is completed after fertilisation, on days 3 and 5 post oocyte retrieval and evaluate...
New Approach for Risk Estimation Algorithms of Negativeness Detection with Modelling Supervised Machine Learning Techniques.
Disease markers
Dec 9, 2020
gene testing is a difficult, expensive, and time-consuming test which requires excessive work load. The identification of the gene mutations is significantly important in the selection of treatment and the risk of secondary cancer. We aimed to deve...
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy.
Journal of medical genetics
Nov 9, 2020
BACKGROUND: Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial intelligence-based chatbot deployed to patients scheduled for colo...
Bioethics and healthcare policies. The benefit of using genetic tests of BRCA 1 and BRCA 2 in elderly patients.
The International journal of health planning and management
Sep 25, 2020
This study focuses on the role of bioethics in designing public healthcare policies towards elderly patients with cancer. The general overview of public administration and healthcare approach to treatment. Interpretation of how the EU public administ...
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
Molecular genetics & genomic medicine
Sep 22, 2020
BACKGROUND: Current copy number variation (CNV) identification methods have rapidly become mature. However, the postdetection processes such as variant interpretation or reporting are inefficient. To overcome this situation, we developed REDBot as an...
Age-related Macular Degeneration: Nutrition, Genes and Deep Learning-The LXXVI Edward Jackson Memorial Lecture.
American journal of ophthalmology
Jun 20, 2020
PURPOSE: To evaluate the importance of nutritional supplements, dietary pattern, and genetic associations in age-related macular degeneration (AMD); and to discuss the technique of artificial intelligence/deep learning to potentially enhance research...
Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future.
Annals of the rheumatic diseases
Mar 24, 2020
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