ArticleNucleic acids research2021
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05720169 (Fetal, Obstetrics and Reproduction Genomics), which is not on this map. Cited by 33 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Fetal, Obstetrics and Reproduction Genomics
Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) onJournal of medical genetics · 2023Pooled it
- Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.Genes · 2020Pooled it
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.Journal of neurology · 2026Observational
- The Spanish Polygenic Score reference distribution: a resource for personalized medicine.European journal of human genetics : EJHG · 2026Article
- Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associated to Ménière's disease.Frontiers in immunology · 2026Article
- Advanced maternal age and assisted reproductive technologies: outcomes, genomics, and real-world evidence.Frontiers in reproductive health · 2026Review
- Article
- Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.International journal of molecular sciences · 2025Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Identification of a pathogenic mutation inJournal of neurology, neurosurgery, and psychiatry · 2025Article
- A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.Genome medicine · 2025Article
- Understanding Parkinson disease in Spain: Genetic and clinical insights.European journal of neurology · 2025Article
- The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.Frontiers in oncology · 2025Article
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.European journal of human genetics : EJHG · 2024Article
- Article
- Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.Disease models & mechanisms · 2023Article
- Germline mutations inJournal of medical genetics · 2023Article
- A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.Pharmaceutics · 2023Article
- A crowdsourcing database for the copy-number variation of the Spanish population.Human genomics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 13 institutions in 2 countries.
Funding
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 variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.