Article
A crowdsourcing database for the copy-number variation of the Spanish population.
Human genomics - 9 Mar 2023
López-López Daniel, Roldán Gema, Fernández-Rueda Jose L, Bostelmann Gerrit, Carmona Rosario, Aquino Virginia, Perez-Florido Javier, Ortuño Francisco, Pita Guillermo, Núñez-Torres Rocío, González-Neira Anna, Peña-Chilet María, Dopazo Joaquin
Abstract excerpt
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...
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