nvestigation of SINE, LINE, and LTR as Potential Breakpoint Regions in Detected CNVs in a Single-Center Study

Ali Torabi, Ali Çiçekli, Sara Razzaghi, Ebru Marzioğlu Özdemir, Özkan Bağcı and Nadir Koçak
Additional contact information
Ali Çiçekli: Medical Genetics Research Associate, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey
Sara Razzaghi: Medical Student, University of Selcuk, Faculty of Medicine, Turkey
Özkan Bağcı: Assistant Professor, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey
Nadir Koçak: Associate Professor, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey

Biomedical Journal of Scientific & Technical Research, 2024, vol. 59, issue 5, 52052-52055

Abstract: Copy Number Variations (CNVs) represent significant sources of genetic diversity and are associated with vari- ous genetic disorders, including developmental, neuropsychiatric, and oncological conditions. While Low-Copy Repeats (LCRs) are well-documented as mediators of CNV formation through Non-Allelic Homologous Recom- bination (NAHR), the contributions of other repetitive elements such as short interspersed nuclear elements (SINEs), long Interspersed Nuclear Elements (LINEs), and Long Terminal Repeats (LTRs) remain underexplored. This study investigates the prevalence and role of these repetitive elements as breakpoint regions in CNVs de- tected in a single-center cohort.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2024
References: Add references at CitEc
Citations:

Downloads: (external link)
https://biomedres.us/pdfs/BJSTR.MS.ID.009376.pdf (application/pdf)
https://biomedres.us/fulltexts/BJSTR.MS.ID.009376.php (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:59:y:2024:i:5:p:52052-52055

DOI: 10.26717/BJSTR.2024.59.009376

Access Statistics for this article

Biomedical Journal of Scientific & Technical Research is currently edited by Robert Thomas

More articles in Biomedical Journal of Scientific & Technical Research from Biomedical Research Network+, LLC
Bibliographic data for series maintained by Angela Roy ().