AIMC Topic: Genetic Diseases, Inborn
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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
BMC medical informatics and decision making
Feb 5, 2025
BACKGROUND: Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp ...
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.
Prenatal diagnosis
Apr 30, 2024
OBJECTIVE: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularl...
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.
Human genetics
Mar 23, 2024
Identifying disease-causing variants in Rare Disease patients' genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called "Suggested Diagnosis", whose aim is to prioritize genetic variants in an...
A Combined Manual Annotation and Deep-Learning Natural Language Processing Study on Accurate Entity Extraction in Hereditary Disease Related Biomedical Literature.
Interdisciplinary sciences, computational life sciences
Feb 10, 2024
We report a combined manual annotation and deep-learning natural language processing study to make accurate entity extraction in hereditary disease related biomedical literature. A total of 400 full articles were manually annotated based on published...
Highly Performing Automatic Detection of Structural Chromosomal Abnormalities Using Siamese Architecture.
Journal of molecular biology
Mar 10, 2023
The detection of structural chromosomal abnormalities (SCA) is crucial for diagnosis, prognosis and management of many genetic diseases and cancers. This detection, done by highly qualified medical experts, is tedious and time-consuming. We propose a...
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
American journal of human genetics
Jan 20, 2022
In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapi...
The Effects of Over-Ground Robot-Assisted Gait Training for Children with Ataxic Cerebral Palsy: A Case Report.
Sensors (Basel, Switzerland)
Nov 26, 2021
Poor balance and ataxic gait are major impediments to independent living in ataxic cerebral palsy (CP). Robot assisted-gait training (RAGT) has been shown to improve the postural balance and gait function in children with CP. However, there is no rep...
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
The Lancet. Digital health
Sep 1, 2021
BACKGROUND: Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We, therefore, aimed to develop and evaluate a machine learning-based screening te...
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.
European journal of human genetics : EJHG
Jul 19, 2021
A primary challenge in understanding disease biology from genome-wide association studies (GWAS) arises from the inability to directly implicate causal genes from association data. Integration of multiple-omics data sources potentially provides impor...
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases.
European journal of human genetics : EJHG
Jul 19, 2021
Patients with rare diseases are a major challenge for healthcare systems. These patients face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to therapies, and absence of valid monitoring tools. We reviewed the relevan...
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