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

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Resumo: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.
Autores principais:Silva, Giovani L.
Outros Autores:Sequeira, Inês J.; Gomes, D. Prata; Rueff, José; Brás, Aldina
Assunto:Chromosomal fragile sites deletions duplications logistic regression model Statistics, Probability and Uncertainty Statistics and Probability
Ano:2024
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Universidade Nova de Lisboa
Idioma:inglês
Origem:Repositório Institucional da UNL
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author Silva, Giovani L.
author2 Sequeira, Inês J.
Gomes, D. Prata
Rueff, José
Brás, Aldina
author2_role author
author
author
author
author_facet Silva, Giovani L.
Sequeira, Inês J.
Gomes, D. Prata
Rueff, José
Brás, Aldina
author_role author
contributor_name_str_mv CMA - Centro de Matemática e Aplicações
DM - Departamento de Matemática
Faculdade de Ciências e Tecnologia (FCT)
Centre for Toxicogenomics and Human Health (ToxOmics)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Taylor & Francis
RUN
country_str PT
creators_json_txt [{\"Person.name\":\"Silva, Giovani L.\"},{\"Person.name\":\"Sequeira, Inês J.\"},{\"Person.name\":\"Gomes, D. Prata\"},{\"Person.name\":\"Rueff, José\"},{\"Person.name\":\"Brás, Aldina\"}]
datacite.contributors.contributor.contributorName.fl_str_mv CMA - Centro de Matemática e Aplicações
DM - Departamento de Matemática
Faculdade de Ciências e Tecnologia (FCT)
Centre for Toxicogenomics and Human Health (ToxOmics)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Taylor & Francis
RUN
datacite.creators.creator.creatorName.fl_str_mv Silva, Giovani L.
Sequeira, Inês J.
Gomes, D. Prata
Rueff, José
Brás, Aldina
datacite.date.Accepted.fl_str_mv 2024-01-01T00:00:00Z
datacite.date.available.fl_str_mv 2026-03-31T12:53:01Z
datacite.date.embargoed.fl_str_mv 2026-03-31T12:53:01Z
datacite.rights.fl_str_mv http://purl.org/coar/access_right/c_abf2
datacite.subjects.subject.fl_str_mv Chromosomal fragile sites
deletions
duplications
logistic regression model
Statistics, Probability and Uncertainty
Statistics and Probability
datacite.titles.title.fl_str_mv An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
dc.contributor.none.fl_str_mv CMA - Centro de Matemática e Aplicações
DM - Departamento de Matemática
Faculdade de Ciências e Tecnologia (FCT)
Centre for Toxicogenomics and Human Health (ToxOmics)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Taylor & Francis
RUN
dc.creator.none.fl_str_mv Silva, Giovani L.
Sequeira, Inês J.
Gomes, D. Prata
Rueff, José
Brás, Aldina
dc.date.Accepted.fl_str_mv 2024-01-01T00:00:00Z
dc.date.available.fl_str_mv 2026-03-31T12:53:01Z
dc.date.embargoed.fl_str_mv 2026-03-31T12:53:01Z
dc.format.none.fl_str_mv application/pdf
dc.identifier.none.fl_str_mv http://hdl.handle.net/10362/201947
dc.language.none.fl_str_mv eng
dc.rights.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.subject.none.fl_str_mv Chromosomal fragile sites
deletions
duplications
logistic regression model
Statistics, Probability and Uncertainty
Statistics and Probability
dc.title.fl_str_mv An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
dc.type.none.fl_str_mv http://purl.org/coar/resource_type/c_6501
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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eu_rights_str_mv openAccess
format article
fulltext.url.fl_str_mv https://run.unl.pt/bitstreams/c6a234d2-f790-4f9a-b2f8-7a61232f3216/download
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identifier.url.fl_str_mv http://hdl.handle.net/10362/201947
inst_facet_str urn:organizationAcronym:unl{{{_:::_}}}Universidade Nova de Lisboa
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institution Universidade Nova de Lisboa
instname_str Universidade Nova de Lisboa
language eng
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network_name_str Repositório Institucional da UNL
oai_identifier_str oai:run.unl.pt:10362/201947
organization_str_mv urn:organizationAcronym:unl
person_str_mv Silva, Giovani L.
Sequeira, Inês J.
Gomes, D. Prata
Rueff, José
Brás, Aldina
publishDate 2024
repo_facet_str urn:repositoryAcronym:run{{{_:::_}}}Repositório Institucional da UNL
reponame_str Repositório Institucional da UNL
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spelling engenChromosomal 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.application/pdfenAn application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sitesSilva, Giovani L.Sequeira, Inês J.Gomes, D. PrataRueff, JoséBrás, AldinaCMA - Centro de Matemática e AplicaçõesDM - Departamento de MatemáticaFaculdade de Ciências e Tecnologia (FCT)Centre for Toxicogenomics and Human Health (ToxOmics)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Taylor & FrancisHostingInstitutionOrganizationalRUNe-mailmailto:run@unl.ptrun@unl.ptISSNIsPartOf2768-4520URNIsPartOfPURE: 159242251URNIsPartOfPURE UUID: 8dc63e06-148a-419e-8f82-99e31169fa11URNIsPartOfScopus: 105018755188URNIsPartOfORCID: /0000-0002-5165-2346/work/210364222DOIIsPartOf10.1080/27684520.2024.23311102026-03-31T12:53:01Z20242024-01-01T00:00:00ZHandlehttp://hdl.handle.net/10362/201947http://purl.org/coar/access_right/c_abf2open accessChromosomal fragile sitesdeletionsduplicationslogistic regression modelStatistics, Probability and UncertaintyStatistics and Probability2386018 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://run.unl.pt/bitstreams/c6a234d2-f790-4f9a-b2f8-7a61232f3216/download
spellingShingle An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
Silva, Giovani L.
Chromosomal fragile sites
deletions
duplications
logistic regression model
Statistics, Probability and Uncertainty
Statistics and Probability
status SINGLETON
subject.fl_str_mv Chromosomal fragile sites
deletions
duplications
logistic regression model
Statistics, Probability and Uncertainty
Statistics and Probability
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 An 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
Statistics, Probability and Uncertainty
Statistics and Probability
topic_facet Chromosomal fragile sites
deletions
duplications
logistic regression model
Statistics, Probability and Uncertainty
Statistics and Probability
url http://hdl.handle.net/10362/201947
visible 1