Publication:
X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline.

dc.contributor.authorAnguita-Ruiz, Augusto
dc.contributor.authorPlaza-Diaz, Julio
dc.contributor.authorRuiz-Ojeda, Francisco Javier
dc.contributor.authorRuperez, Azahara I
dc.contributor.authorLeis, Rosaura
dc.contributor.authorBueno, Gloria
dc.contributor.authorGil-Campos, Mercedes
dc.contributor.authorVazquez-Cobela, Rocio
dc.contributor.authorCañete, Ramon
dc.contributor.authorMoreno, Luis A
dc.contributor.authorGil, Angel
dc.contributor.authorAguilera, Concepcion Maria
dc.contributor.funderPlan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica (I+D+I), Instituto de Salud Carlos III-Fondo de Investigación Sanitaria (FONDOS FEDER)
dc.contributor.funderRedes temáticas de investigación cooperativa RETIC
dc.contributor.funderMapfre Foundation.
dc.date.accessioned2023-01-25T13:37:17Z
dc.date.available2023-01-25T13:37:17Z
dc.date.issued2019-05-24
dc.description.abstractX chromosome genetic variation has been proposed as a potential source of missing heritability for many complex diseases, including obesity. Currently, there is a lack of public available genetic datasets incorporating X chromosome genotype data. Although several X chromosome-specific statistics have been developed, there is also a lack of readily available implementations for routine analysis. Here, we aimed: (1) to make public and describe a dataset incorporating phenotype and X chromosome genotype data from a cohort of 915 normal-weight, overweight and obese children, and (2) to deeply describe a whole implementation of the special X chromosome analytic process in genetics. Datasets and pipelines like this are crucial to get familiar with the steps in which X chromosome requires special attention and may raise awareness of the importance of this genomic region.
dc.description.sponsorshipThis paper will be part of Augusto Anguita-Ruiz’s doctorate, which is being completed as part of the “Nutrition and Food Sciences Program” at the University of Granada, Spain. The authors would like to thank the children and parents who participated in the study. This work was supported by the Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica (I+D+I), Instituto de Salud Carlos III-Fondo de Investigación Sanitaria (FONDOS FEDER) Projects numbers PI051968, PI1102042 and PI1600871, Redes temáticas de investigación cooperativa RETIC (Red SAMID RD12/0026/0015) and the Mapfre Foundation. The authors also acknowledge the Institute of Health Carlos III for personal funding: “Contratos i-PFIS: doctorados IIS-empresa en ciencias y tecnologías de la salud de la convocatoria 2017 de la Acción Estratégica en Salud 2013–2016, Project number: IFI17/00048”.
dc.description.versionSi
dc.identifier.citationAnguita-Ruiz A, Plaza-Diaz J, Ruiz-Ojeda FJ, Rupérez AI, Leis R, Bueno G, et al. X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline. Sci Data. 2019 Jul 22;6(1):130.
dc.identifier.doi10.1038/s41597-019-0109-3
dc.identifier.essn2052-4463
dc.identifier.pmcPMC6646348
dc.identifier.pmid31332195
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646348/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41597-019-0109-3.pdf
dc.identifier.urihttp://hdl.handle.net/10668/14281
dc.issue.number1
dc.journal.titleScientific data
dc.journal.titleabbreviationSci Data
dc.language.isoen
dc.organizationIBS
dc.organizationIMIBIC
dc.page.number10
dc.publisherNature Publishing Group
dc.pubmedtypeDataset
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.projectIDRD12/0026/0015
dc.relation.projectIDPI051968
dc.relation.projectIDPI1102042
dc.relation.projectIDPI1600871
dc.relation.publisherversionhttps://doi.org/10.1038/s41597-019-0109-3
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGenetic Variation
dc.subjectChild
dc.subjectChromosomes, Human, X
dc.subjectFemale
dc.subjectGene Frequency
dc.subject.decsEspaña
dc.subject.decsFenotipo
dc.subject.decsGenotipo
dc.subject.decsHumanos
dc.subject.decsMasculino
dc.subject.decsObesidad infantil
dc.subject.decsSobrepeso
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshOverweight
dc.subject.meshPediatric Obesity
dc.subject.meshPhenotype
dc.subject.meshSpain
dc.titleX chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number6
dspace.entity.typePublication

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