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

Chromosomal 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 signific...

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主要な著者: Giovani L. Silva, Inês J. Sequeira, D. Prata Gomes, José Rueff, Aldina Brás
フォーマット: 論文
言語:English
出版事項: Taylor & Francis 2024-12-01
シリーズ:Research in Statistics
主題:
オンライン・アクセス:https://www.tandfonline.com/doi/10.1080/27684520.2024.2331110
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author Giovani L. Silva
Inês J. Sequeira
D. Prata Gomes
José Rueff
Aldina Brás
author_facet Giovani L. Silva
Inês J. Sequeira
D. Prata Gomes
José Rueff
Aldina Brás
author_sort Giovani L. Silva
collection DOAJ
description Chromosomal 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.
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spelling doaj.art-2fc6c9184e1b48a5843ebac669ebb9612024-12-02T19:00:47ZengTaylor & FrancisResearch in Statistics2768-45202024-12-012110.1080/27684520.2024.2331110An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sitesGiovani L. Silva0Inês J. Sequeira1D. Prata Gomes2José Rueff3Aldina Brás4Centre of Statistics and its Applications (CEAUL) and Dep. Mathematics, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, PortugalCenter for Mathematics and Applications (NOVA Math) and Department of Mathematics, NOVA FCT, Lisbon, PortugalCenter for Mathematics and Applications (NOVA Math) and Department of Mathematics, NOVA FCT, Lisbon, PortugalTOXOMICS, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalTOXOMICS, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalChromosomal 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.https://www.tandfonline.com/doi/10.1080/27684520.2024.2331110Chromosomal fragile sitesdeletionsduplicationslogistic regression model
spellingShingle Giovani L. Silva
Inês J. Sequeira
D. Prata Gomes
José Rueff
Aldina Brás
An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
Research in Statistics
Chromosomal fragile sites
deletions
duplications
logistic regression model
title An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
title_full An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
title_fullStr An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
title_full_unstemmed An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
title_short An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
title_sort application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
topic Chromosomal fragile sites
deletions
duplications
logistic regression model
url https://www.tandfonline.com/doi/10.1080/27684520.2024.2331110
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