An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites
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...
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Published in: | Research in statistics (Philadelphia, Pa.) Vol. 2; no. 1 |
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Abstract | 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. |
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AbstractList | 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. |
Author | Rueff, José Silva, Giovani L. Gomes, D. Prata Sequeira, Inês J. Brás, Aldina |
Author_xml | – sequence: 1 givenname: Giovani L. orcidid: 0000-0002-7434-2383 surname: Silva fullname: Silva, Giovani L. organization: Centre of Statistics and its Applications (CEAUL) and Dep. Mathematics, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal – sequence: 2 givenname: Inês J. orcidid: 0000-0003-4758-355X surname: Sequeira fullname: Sequeira, Inês J. organization: Center for Mathematics and Applications (NOVA Math) and Department of Mathematics, NOVA FCT, Lisbon, Portugal – sequence: 3 givenname: D. Prata orcidid: 0000-0002-5165-2346 surname: Gomes fullname: Gomes, D. Prata organization: Center for Mathematics and Applications (NOVA Math) and Department of Mathematics, NOVA FCT, Lisbon, Portugal – sequence: 4 givenname: José orcidid: 0000-0002-8456-7295 surname: Rueff fullname: Rueff, José organization: TOXOMICS, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal – sequence: 5 givenname: Aldina surname: Brás fullname: Brás, Aldina organization: TOXOMICS, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal |
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Cites_doi | 10.1093/hmg/ddm136 10.1093/hmg/9.8.1201 10.1002/ajmg.a.32992 10.4267/2042/46078 10.1016/0092-8674(91)90397-H 10.1146/annurev.genet.41.042007.165900 10.1590/S1415-47572014000200007 10.2105/AJPH.81.12.1630 10.1016/j.ejmg.2013.03.007 10.1186/1755-8166-5-30 10.1111/j.1365-2141.2011.08817.x 10.1002/9781118548387 10.1016/j.gde.2012.02.012 10.1063/1.4968684 10.1002/(SICI)1096-8628(19990423)83:5<431::AID-AJMG20>3.0.CO;2-K 10.1111/j.1572-0241.2001.04674.x 10.1186/1471-2164-10-59 10.1002/ajmg.a.31538 10.1016/j.bbagrm.2007.10.005 10.1136/jmg.27.4.267 10.1002/0471249688 10.1073/pnas.96.13.7456 10.21315/mjms2018.25.4.12 10.1080/01621459.2021.1990769 10.1111/j.0006-341X.2001.00435.x 10.1136/jmg.2006.044628 10.1007/s00246-014-1028-x 10.1136/jmg.24.5.305 10.4236/ojgen.2013.32A3002 10.1038/ng0596-109 10.2307/2529939 10.1201/b21296 10.1016/j.ajhg.2012.02.018 10.1016/0010-4825(80)90036-0 10.1101/gr.134395.111 10.1038/ng0892-341 10.1086/510800 |
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Snippet | AbstractChromosomal fragile sites (CFSs) are loci or regions susceptible to spontaneous or induced occurrence of breaks and rearrangements. They are classified... |
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Title | An application of logistic regression model to the study of constitutional imbalances in human chromosomal fragile sites |
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