P690: An ensemble feature selection and nested cross-validation approach using miRNA profiles for the automated detection of Usher syndrome
Usher syndrome is a rare genetic disorder characterized by hearing loss, vision impairment, and balance issues. Traditional testing for Usher syndrome involves a combination of clinical assessments, genetic testing, and, in some cases, imaging studies. These methods are effective but can be time-intensive, costly, and inaccessible for many, often requiring multiple visits to specialized clinics and labs. Given these limitations, there is a critical need for more efficient, non-invasive, and automated diagnostic approaches.
Authors
- Wesley Tom
- Gary Krzyzanowski
- Rohan L. Fernando (ORCID: https://orcid.org/0000-0001-5821-099X)
- Dinesh S. Chandel (ORCID: https://orcid.org/0000-0002-0424-9423)
- Appolinaire Olou (ORCID: https://orcid.org/0000-0002-6754-2969)
- Chao Jiang (ORCID: https://orcid.org/0000-0002-3929-6705)
- Rama Krishna Thelagathoti
Institutions
- Boys Town National Research Hospital (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103059
- Primary Topic
- MicroRNA in disease regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00