The human chromosomal fragile sites more often involved in constitutional deletions and duplications - A genetic and statistical assessment

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Abstract

Human chromosomal fragile sites (CFSs) are heritable loci or regions of the human chromosomes prone to exhibit gaps, breaks and rearrangements. Determining the frequency of deletions and duplications in CFSs may contribute to explain the occurrence of human disease due to those rearrangements. In this study we analyzed the frequency of deletions and duplications in each human CFS. Statistical methods, namely data display, descriptive statistics and linear regression analysis were applied to analyze this dataset. We found that FRA15C, FRA16A and FRAXB are the most frequently involved CFSs in deletions and duplications occurring in the human genome.

Original languageEnglish
Title of host publicationInternational Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016
PublisherAmerican Institute of Physics Inc.
Volume1790
ISBN (Electronic)9780735414549
DOIs
Publication statusPublished - 6 Dec 2016
EventInternational Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016 - Athens, Greece
Duration: 17 Mar 201620 Mar 2016

Conference

ConferenceInternational Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016
CountryGreece
CityAthens
Period17/03/1620/03/16

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  • Cite this

    Gomes, D. P., Sequeira, I. J., Figueiredo, C., Rueff, J., & Brás, A. (2016). The human chromosomal fragile sites more often involved in constitutional deletions and duplications - A genetic and statistical assessment. In International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016 (Vol. 1790). [080003] American Institute of Physics Inc.. https://doi.org/10.1063/1.4968684