RT Journal Article
T1 X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline.
A1 Anguita-Ruiz, Augusto
A1 Plaza-Diaz, Julio
A1 Ruiz-Ojeda, Francisco Javier
A1 Ruperez, Azahara I
A1 Leis, Rosaura
A1 Bueno, Gloria
A1 Gil-Campos, Mercedes
A1 Vazquez-Cobela, Rocio
A1 Cañete, Ramon
A1 Moreno, Luis A
A1 Gil, Angel
A1 Aguilera, Concepcion Maria
K1 Genetic Variation
K1 Child
K1 Chromosomes, Human, X
K1 Female
K1 Gene Frequency
AB X 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.
PB Nature Publishing Group
YR 2019
FD 2019-05-24
LK http://hdl.handle.net/10668/14281
UL http://hdl.handle.net/10668/14281
LA en
NO Anguita-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.
NO This 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”.
DS RISalud
RD Apr 11, 2025