@CSVS_es

The database of genetic variation of the Spanish population

 Sevilla, Spain
csvs.babelomics.org
Joined February 2020
  • Tweets135
  • Following1
  • Followers151
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Very happy to announce the publication of CSVS @NAR_Research. A truly collaborative effort to know the Spanish genetic variation @CIBERER @navarrabiomed @FProgresoysalud @ClinicalBioinfo @ibis_sevilla @saludand @NoInvisibles @INB_Official @eSaludInvestiga academic.oup.com/nar/advance…

CSVS, a crowdsourcing database of the Spanish population genetic variability

Abstract. The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a crit

academic.oup.com
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Crean un atlas genético que predice el riesgo de patologías comunes europasur.es/salud/investiga… un trabajo colectivo de @FProgresoysalud @ibis_sevilla @CIBERER @navarrabiomed y muchos más investigadores @AEGHgenetica @INB_Official @SEFF_Oficial @Farmaindustria

Crean un atlas genético que predice el riesgo de patologías comunes

El nuevo SpPGS Atlas compara el riesgo genético individual con el de la población general

europasur.es
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PGS adjusted to the Spanish population are available at the @CSVS_es csvs.clinbioinfosspa.es/ along with more useful information on the genomic variability of the Spanish population @AEGHgenetica @PharmaGenetics @Farmaindustria @Orphanet @FEDER_ONG @SEFF_Oficial
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Very happy to have our paper "The Spanish Polygenic Score reference distribution: a resource for personalized medicine" a collaborative work with many colleages from the @CIBERER and others nature.com/articles/s41431-0… @FProgresoysalud @ibis_sevilla @INB_Official @AEGHgenetica

The Spanish Polygenic Score reference distribution: a resource for personalized medicine

European Journal of Human Genetics - The Spanish Polygenic Score reference distribution: a resource for personalized medicine

nature.com
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The PRS distributions are available at the @CSVS_es server csvs.clinbioinfosspa.es/ along with many more details on the genetic variability of the Spanish population
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A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly genomemedicine.biomedcentral… New discoveries with #CSVS @FProgresoysalud @ibis_sevilla @CIBERER @INB_Official @FEDER_ONG @NoInvisibles @Orphanet @RareGenomics @RarasReales

A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with...

Genome Medicine - Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause...

link.springer.com
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Felices del reconocimiento a todo el equipo! @CSVS_es sigue creciendo!
Joaquin Dopazo@xdopazo29 Nov 2024
Creación del primer repositorio del epigenoma de referencia de población española en el contexto CIBER #CongresoCIBER Premio en sesión Nuevas tecnologías y metodologías ómicas aplicadas al diagnóstico @FProgresoysalud @ibis_sevilla @CIBERER csvs.clinbioinfosspa.es/ @INB_Official
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Creación del primer repositorio del epigenoma de referencia de población española en el contexto CIBER #CongresoCIBER Premio en sesión Nuevas tecnologías y metodologías ómicas aplicadas al diagnóstico @FProgresoysalud @ibis_sevilla @CIBERER csvs.clinbioinfosspa.es/ @INB_Official
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Destacando la importancia de conocer la variabilidad local esoañola también en la farmacogenética. Dentro de la IV jornada de la Sociedad Española de Farmacogenética y Farmacogenomica. @SEFF_Oficial  @CSVS_es @FProgresoysalud @ClinicalBioinfo
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The importance of the local genetic variation in the "Status of the implementation of pharmacogenetics in clinical practice in Spain: from regional to national initiatives" #CSVS degruyter.com/document/doi/1… @FProgresoysalud @CIBERER @ibis_sevilla @AEGHgenetica @Farmaindustria
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#CSVS used to Understand the genetic and clinical profile of Parkinson disease in Spain onlinelibrary.wiley.com/doi/… in @EurJournalNeuro @AEGHgenetica @ParkinsonDotOrg @CIBERER @ibis_sevilla

Understanding Parkinson disease in Spain: Genetic and clinical insights

Background and purpose Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of enviro...

onlinelibrary.wiley.com
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La importancia de la variación genética de la población local en la medicina personalizada. Reflexiones sobre la improtancia del recurso #CSVS @ciberer en la revista de la @SEISeSalud seis.es/is-161/ @SaludISCIII @FProgresoysalud @ibis_sevilla @INB_Official

I+S 161 (Octubre 2024) - Sociedad Española de Informática de la Salud

Revista I+S nº 161

seis.es
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#CSVS used for the Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis jnnp.bmj.com/content/early/2… @FProgresoysalud @CIBERER @AEGHgenetica @FEDER_ONG @NoInvisibles
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@CSVS_es retweeted
@CSVS_es@CSVS_es24 Jun 2024
#CSVS, la base de datos de variación genética de la población española, usada por Rosario Carmona @RCarmoMu en un interesante estudio de búsqueda de hallazgos secundarios de riesgos de enfermedades o #farmacogeneticos @ibis @CIBERER @FProgresoysalud @AEGHgenetica
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#CSVS, la base de datos de variación genética de la población española, usada por Rosario Carmona @RCarmoMu en un interesante estudio de búsqueda de hallazgos secundarios de riesgos de enfermedades o #farmacogeneticos @ibis @CIBERER @FProgresoysalud @AEGHgenetica
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Replying to @RCarmoMu
@RCarmoMu abre la primera sesión de las #JABI24 hablando de hallazgos secundarios en la @CSVS_es, el repositorio de variación genética de la población española @CIBERER @FProgresoysalud @ibis_sevilla @INB_Official @AEGHgenetica @FundacionPTS @jabi_conference
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Happy to participate in this amazing contribution to the characterization of the local genetic vaiability of the Spanish population mdpi.com/2073-4425/15/5/585 More tools for #raredisease diagnosis and research. @FProgresoysalud @ibis_sevilla @CIBERER @INB_Official @AEGHgenetica
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A new paper with the Characterization of the Common Genetic Variation in the Spanish Population of Navarre mdpi.com/2073-4425/15/5/585 that cites #CSVS @ClinicalBioinfo @FProgresoysalud @INB_Official @CIBERER

Characterization of the Common Genetic Variation in the Spanish Population of Navarre

Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for distinguishing common benign variants...

mdpi.com
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Proud to be part of this initiative "Characterization of the common genetic variation in the Spanish population of Navarre" medrxiv.org/content/10.1101/… @FProgresoysalud @ibis_sevilla @CIBERER @CSVS_es @INB_Official @navarrabiomed @AEGHgenetica @FEDER_ONG

Characterization of the common genetic variation in the Spanish population of Navarre

Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for distinguishing common benign variants...

medrxiv.org
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#CSVS / #SPACNACS cited in "Public platform with 39,472 exome control samples enables association studies without genotype sharing" nature.com/articles/s41588-0… @NatureGenet @CIBERER @INB_Official @FProgresoysalud @ibis_sevilla @Share4Rare @AEGHgenetica @RareGenomics @Orphanet
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Another paper using the #CSVS: Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile nature.com/articles/s41431-0… @FProgresoysalud @CIBERER @ibis_sevilla @INB_Official @RarasReales @FEDER_ONG @NoInvisibles @Share4Rare
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