000125830 001__ 125830
000125830 005__ 20230830110719.0
000125830 0247_ $$2doi$$a10.1186/s40246-023-00466-8
000125830 0248_ $$2sideral$$a133246
000125830 037__ $$aART-2023-133246
000125830 041__ $$aeng
000125830 100__ $$aLópez-López, Daniel
000125830 245__ $$aA crowdsourcing database for the copy-number variation of the Spanish population
000125830 260__ $$c2023
000125830 5060_ $$aAccess copy available to the general public$$fUnrestricted
000125830 5203_ $$aBackground: Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants. Results: Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/. Conclusion: SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.
000125830 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/IMP-00009$$9info:eu-repo/grantAgreement/ES/ISCIII/IMP-00019$$9info:eu-repo/grantAgreement/ES/ISCIII/PI20-01305$$9info:eu-repo/grantAgreement/ES/PID2020-117979RB-I00
000125830 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000125830 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000125830 700__ $$aRoldán, Gema
000125830 700__ $$aFernández-Rueda, Jose L.
000125830 700__ $$aBostelmann, Gerrit
000125830 700__ $$aCarmona, Rosario
000125830 700__ $$aAquino, Virginia
000125830 700__ $$aPerez-Florido, Javier
000125830 700__ $$aOrtuño, Francisco
000125830 700__ $$aPita, Guillermo
000125830 700__ $$aNúñez-Torres, Rocío
000125830 700__ $$aGonzález-Neira, Anna
000125830 700__ $$aAlonso, Angel
000125830 700__ $$aSalgado-Garrido, Josefa
000125830 700__ $$aPasalodos-Sanchez, Sara
000125830 700__ $$aAyuso, Carmen
000125830 700__ $$aMinguez, Pablo
000125830 700__ $$aAvila-Fernandez, Almudena
000125830 700__ $$aCorton, Marta
000125830 700__ $$aArtuch, Rafael
000125830 700__ $$aBorrego, Salud
000125830 700__ $$aAntiñolo, Guillermo
000125830 700__ $$aCarracedo, Angel
000125830 700__ $$aAmigo, Jorge
000125830 700__ $$aCastaño, Luis Antonio
000125830 700__ $$aTejada, Isabel
000125830 700__ $$aDelmiro, Aitor
000125830 700__ $$aEspinos, Carmina
000125830 700__ $$aGrinberg, Daniel
000125830 700__ $$aGuillén, Encarnación
000125830 700__ $$aLapunzina, Pablo
000125830 700__ $$aLopez-Escámez, Jose Antonio
000125830 700__ $$aGallego-Martinez, Alvaro
000125830 700__ $$aMartí, Ramón
000125830 700__ $$aRovira, Eulalia
000125830 700__ $$aMillán, José Mª
000125830 700__ $$aMoreno, Miguel Angel
000125830 700__ $$aMorin, Matías
000125830 700__ $$aMoreno-Galdó, Antonio
000125830 700__ $$aFernández-Cancio, Mónica
000125830 700__ $$aMorte, Beatriz
000125830 700__ $$aMulero, Victoriano
000125830 700__ $$aGarcía, Diana
000125830 700__ $$aNunes, Virginia
000125830 700__ $$aPalau, Francesc
000125830 700__ $$aPerez, Belén
000125830 700__ $$aJurado, Luis Pérez
000125830 700__ $$aPerona, Rosario
000125830 700__ $$aPujol, Aurora
000125830 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano$$uUniversidad de Zaragoza
000125830 700__ $$aLopez, Esther
000125830 700__ $$aRibes, Antonia
000125830 700__ $$aRosell, Jordi
000125830 700__ $$aSurrallés, Jordi
000125830 700__ $$aPeña-Chilet, María
000125830 700__ $$aDopazo, Joaquin
000125830 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000125830 773__ $$g17 (2023), 20 [12 pp.]$$pHum. genomics$$tHuman genomics$$x1473-9542
000125830 8564_ $$s1644142$$uhttps://zaguan.unizar.es/record/125830/files/texto_completo.pdf$$yVersión publicada
000125830 8564_ $$s2209229$$uhttps://zaguan.unizar.es/record/125830/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000125830 909CO $$ooai:zaguan.unizar.es:125830$$particulos$$pdriver
000125830 951__ $$a2023-08-30-10:59:55
000125830 980__ $$aARTICLE