Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review (Preprint) DOI
Mega O. Oyovwi, Ohwin Peggy Ejiro, Rume A. Rotu

et al.

Published: March 15, 2024

BACKGROUND Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling mostly used, which carry a risk of miscarriage. This has led the need for noninvasive innovative approach detect prevent chromosomal during pregnancy. OBJECTIVE review aims describe appraise potential internet-based abnormal preventive measures detecting preventing METHODS A thorough existing literature research on approaches prenatal diagnosis therapy was conducted. Electronic databases PubMed, Google Scholar, ScienceDirect, CENTRAL, CINAHL, Embase, OVID MEDLINE, PsycINFO, Scopus, ACM, IEEE Xplore were searched relevant studies articles published in last 5 years. The keywords used included <i>chromosomal abnormalities</i>, <i>prenatal diagnosis</i>, <i>noninvasive</i>, <i>internet-based</i>, <i>diagnosis</i>. RESULTS revealed that is involves use advanced technology, including high-resolution ultrasound, cell-free DNA testing, bioinformatics, analyze fetal from maternal blood samples. It allows early detection abnormalities, enabling timely interventions treatment adverse outcomes. Furthermore, with advancement emerged safe alternative benefits its cost-effectiveness, increased accessibility convenience, earlier intervention, ethical considerations. CONCLUSIONS Internet-based revolutionize care offering procedures. improve better pregnancy outcomes reduced Further development this field needed make more accessible affordable pregnant women.

Language: Английский

Bioinformatics and AI/ML approaches using multi-omics data to accelerate diagnosis and delivery of precision care for patients with rare diseases DOI
Kritika Singh,

Sarah Usman,

Saman Zeeshan

et al.

Methods in cell biology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Language: Английский

Citations

0
Endure or perish with use of artificial intelligence in clinical genetics settings DOI
Partha Pratim Ray

European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: April 22, 2025

Language: Английский

Citations

0
Artificial intelligence: its potential in personalized public health strategies and genetic data analysis: a narrative review DOI
Gülcan Demir Özdenk, Zeynep Yeğin

Personalized Medicine, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 9

Published: April 21, 2025

This review comprehensively evaluates personalized public health strategies using artificial intelligence (AI) in disease prediction/management and genetic data analysis. In the field of healthcare, AI has achieved significant advancements analysis data. Its applications include predicting spread infectious diseases, evaluating individual risk factors, optimizing resource management. realm data, offers groundbreaking contributions such as identifying analyzing mutations, developing treatment plans. this review, we evaluated importance preventive medicine a structured way by including concrete application examples. Ethical legal responsibilities must be considered due to implications AI-generated decisions. By integrating into genetics, are poised unlock unprecedented opportunities for advancing human health. approach not only enhances our ability understand address complex challenges but also paves equitable, effective, individualized care solutions on global scale. addressed interactions between particular subdomains with most recent literature legal/ethical perspective.

Language: Английский

Citations

0
Generative AI for Emerging Researchers: The Promises, Ethics, and Risks DOI
David Mhlanga

SSRN Electronic Journal, Journal Year: 2024, Volume and Issue: unknown

Published: Jan. 1, 2024

Download This Paper Open PDF in Browser Add to My Library Share: Permalink Using these links will ensure access this page indefinitely Copy URL DOI

Language: Английский

Citations

3
How Will Artificial Intelligence (AI) Evolve Organizational Leadership? Understanding the Perspectives of Technopreneurs DOI
Syed Yasir Abbas Zaidi, Muhammad Faisal Aslam, Faisal Mahmood

et al.

Global Business and Organizational Excellence, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 5, 2024

ABSTRACT The rapid advancement of artificial intelligence (AI) has made it an indispensable tool for organizations, transforming how leaders make decisions and promising to revolutionize team dynamics. Despite the growing importance AI at organizational leadership level, there is a lack reliable scientific research on will change current practices. To address this gap, study conducted expert interviews with 10 IT companies in Pakistan better understand impacts leadership. findings suggest that bring about significant changes practices, including shifting towards intelligent approaches, making tech‐savvy, expanding human capabilities, learning unlearning traditional managerial competencies, fostering AI‐congruent characteristics, benchmarking sustainability, coaching future. fundamentally alters holds potential future These have important implications practices research.

Language: Английский

Citations

3
Genetic counselors' utilization of ChatGPT in professional practice: A cross‐sectional study DOI
Priyanka Ahimaz, Amanda Bergner,

Michelle E. Florido

et al.

American Journal of Medical Genetics Part A, Journal Year: 2023, Volume and Issue: 194(4)

Published: Dec. 8, 2023

Abstract Purpose The precision medicine era has seen increased utilization of artificial intelligence (AI) in the field genetics. We sought to explore ways that genetic counselors (GCs) currently use publicly accessible AI tool Chat Generative Pre‐trained Transformer (ChatGPT) their work. Methods GCs North America were surveyed about how ChatGPT is used different aspects Descriptive statistics reported through frequencies and means. Results Of 118 who completed survey, 33.8% (40) using work; 47.5% (19) it clinical practice, 35% (14) education, 32.5% (13) research. Most (62.7%; 74) felt saves time on administrative tasks but majority (82.2%; 97) a paramount challenge was risk obtaining incorrect information. not (58.9%; 46) necessary for Conclusion A considerable number are ways, primarily helpful with involve writing. It potential streamline workflow issues encountered genetics, practitioners need be informed uniformly trained its limitations.

Language: Английский

Citations

7
Artificial Intelligence and Precision Public Health: A Balancing Act of Scientific Accuracy, Social Responsibility, and Community Engagement DOI Creative Commons
João V. Cordeiro

Portuguese Journal of Public Health, Journal Year: 2024, Volume and Issue: 42(1), P. 1 - 5

Published: Jan. 1, 2024

Language: Английский

Citations

2
Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies DOI Creative Commons
Asier Larrea‐Sebal, Shifa Jebari Benslaiman, Unai Galicia García

et al.

Current Atherosclerosis Reports, Journal Year: 2023, Volume and Issue: 25(11), P. 839 - 859

Published: Oct. 17, 2023

Familial hypercholesterolemia (FH) is a hereditary condition characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), which increases the risk cardiovascular disease if left untreated. This review aims to discuss role bioinformatics tools in evaluating pathogenicity missense variants associated with FH. Specifically, it highlights use predictive models based on protein sequence, structure, evolutionary conservation, and other relevant features identifying genetic within LDLR, APOB, PCSK9 genes that contribute FH.In recent years, various have emerged as valuable resources for analyzing FH-related genes. Tools such REVEL, Varity, CADD diverse computational approaches predict impact function. These consider factors sequence structural alterations, receptor binding aid interpreting identified variants. While these offer insights, accuracy predictions can vary, especially proteins unique characteristics might not be well represented databases used training. emphasizes significance utilizing assessing FH-associated Despite their contributions, definitive diagnosis variant necessitates functional validation through vitro characterization or cascade screening. step ensures precise identification variants, leading more accurate diagnoses. Integrating data reliable enhance our understanding basis FH, enabling improved diagnosis, stratification, personalized treatment affected individuals. The comprehensive approach outlined this promises advance management inherited disorder, potentially better health outcomes those

Language: Английский

Citations

5
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease DOI Creative Commons
Martin Grønbæk-Thygesen, Rasmus Hartmann‐Petersen

Cell & Bioscience, Journal Year: 2024, Volume and Issue: 14(1)

Published: April 6, 2024

Abstract Canavan disease is an autosomal recessive and lethal neurological disorder, characterized by the spongy degeneration of white matter in brain. The caused a deficiency cytosolic aspartoacylase (ASPA) enzyme, which catalyzes hydrolysis N-acetyl-aspartate (NAA), abundant brain metabolite, into aspartate acetate. On physiological level, mechanism pathogenicity remains somewhat obscure, with multiple, not mutually exclusive, suggested hypotheses. At molecular recent studies have shown that most linked ASPA gene variants lead to structural destabilization subsequent proteasomal degradation protein variants, accordingly should general be considered misfolding disorder. Here, we comprehensively summarize cell biology ASPA, particular focus on disease-linked pathophysiology disease. We highlight importance high-throughput technologies computational prediction tools for making genotype–phenotype predictions as await results ongoing trials therapy

Language: Английский

Citations

1
Role of artificial intelligence in clinical cancer genomics for oncology DOI

Jangmang Chongloi,

Sahar Qazi

Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 61 - 69

Published: Nov. 29, 2024

Language: Английский

Citations

1