RT Journal Article
T1 CSVS, a crowdsourcing database of the Spanish population genetic variability
A1 Peña-Chilet, María
A1 Roldán, Gema
A1 Perez-Florido, Javier
A1 Ortuño, Francisco M.
A1 Carmona, Rosario
A1 Aquino, Virginia
A1 Lopez-Lopez, Daniel
A1 Loucera, Carlos
A1 Fernandez-Rueda, Jose L.
A1 Gallego, Asunción
A1 García-Garcia, Francisco
A1 González-Neira, Anna
A1 Pita, Guillermo
A1 Núñez-Torres, Rocío
A1 Santoyo-López, Javier
A1 Ayuso, Carmen
A1 Minguez, Pablo
A1 Avila-Fernandez, Almudena
A1 Corton, Marta
A1 Moreno-Pelayo, Miguel Ángel
A1 Morin, Matías
A1 Gallego-Martinez, Alvaro
A1 Lopez-Escamez, Jose A.
A1 Borrego, Salud
A1 Antiñolo, Guillermo
A1 Amigo, Jorge
A1 Salgado-Garrido, Josefa
A1 Pasalodos-Sanchez, Sara
A1 Morte, Beatriz
A1 Carracedo, Ángel
A1 Alonso, Ángel
A1 Dopazo, Joaquín
K1 Databases, genetic
K1 Genetic variation
K1 Gene frequency
K1 Crowdsourcing
K1 Genetics, population
K1 Bases de datos genéticas
K1 Variación genética
K1 Frecuencia génica
K1 Participación colectiva
K1 Genética de poblaciones
AB The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/.
PB Oxford University Press on behalf of Nucleic Acids Research
SN 0305-1048
YR 2020
FD 2020-09-29
LK http://hdl.handle.net/10668/4371
UL http://hdl.handle.net/10668/4371
LA en
NO Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, et al.  CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137
DS RISalud
RD Apr 15, 2025