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

Dora Prata Gomes; Inês J. Sequeira; Carlos Figueiredo; José Rueff; Aldina Brás

doi:10.1063/1.4968684

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

Dora Prata Gomes, Inês J. Sequeira, Carlos Figueiredo, José Rueff, Aldina Brás

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

1 Citation (Scopus)

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 language	English
Title of host publication	International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016
Publisher	AIP - American Institute of Physics
Volume	1790
ISBN (Electronic)	9780735414549
DOIs	https://doi.org/10.1063/1.4968684
Publication status	Published - 6 Dec 2016
Event	International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016 - Athens, Greece Duration: 17 Mar 2016 → 20 Mar 2016

Conference

Conference	International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016
Country/Territory	Greece
City	Athens
Period	17/03/16 → 20/03/16

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1063/1.4968684

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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). Article 080003 AIP - American Institute of Physics. https://doi.org/10.1063/1.4968684

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

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.",

author = "Gomes, \{Dora Prata\} and Sequeira, \{In{\^e}s J.\} and Carlos Figueiredo and Jos{\'e} Rueff and Aldina Br{\'a}s",

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doi = "10.1063/1.4968684",

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booktitle = "International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016",

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Gomes, DP , Sequeira, IJ, 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, AIP - American Institute of Physics, International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016, Athens, Greece, 17/03/16. https://doi.org/10.1063/1.4968684

The human chromosomal fragile sites more often involved in constitutional deletions and duplications - A genetic and statistical assessment. / Gomes, Dora Prata ; Sequeira, Inês J.; Figueiredo, Carlos et al.
International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016. Vol. 1790 AIP - American Institute of Physics, 2016. 080003.

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

TY - GEN

T1 - The human chromosomal fragile sites more often involved in constitutional deletions and duplications - A genetic and statistical assessment

AU - Gomes, Dora Prata

AU - Sequeira, Inês J.

AU - Figueiredo, Carlos

AU - Rueff, José

AU - Brás, Aldina

PY - 2016/12/6

Y1 - 2016/12/6

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85008626277

U2 - 10.1063/1.4968684

DO - 10.1063/1.4968684

M3 - Conference contribution

AN - SCOPUS:85008626277

VL - 1790

BT - International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016

PB - AIP - American Institute of Physics

T2 - International Conference of Computational Methods in Sciences and Engineering 2016, ICCMSE 2016

Y2 - 17 March 2016 through 20 March 2016

ER -

Gomes DP , Sequeira IJ, Figueiredo C, Rueff J , Brás A. 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. AIP - American Institute of Physics. 2016. 080003 doi: 10.1063/1.4968684

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

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