An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites

• Published in: Research in statistics (Philadelphia, Pa.) Vol. 2; no. 1
• Main Authors: Silva, Giovani L., Sequeira, Inês J., Gomes, D. Prata, Rueff, José, Brás, Aldina
• Format: Journal Article
• Language: English
• Published: Taylor & Francis 28-03-2024
• Subjects: Chromosomal fragile sites; deletions; duplications; logistic regression model
• ISSN: 2768-4520; 2768-4520
• DOI: 10.1080/27684520.2024.2331110

AbstractChromosomal fragile sites (CFSs) are loci or regions susceptible to spontaneous or induced occurrence of breaks and rearrangements. They are classified in two main categories, rare and common, depending on their frequency in the population. In order to identify which CFSs are influential or significant in the occurrence of deletions and duplications (chromosomal constitutional imbalances), we propose a logistic regression analysis for the CFS data set, since the underlying response variable is categorical, specifically binary (deletion or duplication). Some results are presented here as an informative preliminary contribution to understand the frailty of these CFS in increasing/decreasing of the deletion odds. This study has implications for our comprehension of human pathogenesis.