A crowdsourcing database for the copy-number variation of the Spanish population.

ABSTRACT:

Background

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 collecte

SUBMITTER: Lopez-Lopez D 

PROVIDER: S-EPMC9997023 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature