@misc{10481/66652,
year = {2020},
month = {9},
url = {http://hdl.handle.net/10481/66652},
abstract = {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
variabilityworldwide. CSVS is also part of the GA4GH
Beacon network.},
organization = {Spanish Ministry of Economy and Competitiveness 	
SAF2017-88908-R
PT17/0009/0006
PI19/00321
CIBERER ACCI-06/07/0036
PI14-948
PI171659},
organization = {Regional Government of Madrid, RAREGenomicsCM 	
B2017/BMD3721
B2017/BMD-3721},
organization = {European Union (EU)},
organization = {European Union (EU)

676559},
organization = {University Chair UAM-IIS-FJD of Genomic Medicine},
organization = {Ramon Areces Foundation},
publisher = {Oxford Univ Press},
title = {CSVS, a crowdsourcing database of the Spanish population genetic variability},
doi = {10.1093/nar/gkaa794},
author = {Peña Chilet, María and Gallego Martinez, Álvaro and López Escámez, José Antonio},
}