An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Autor: Jayne Y. Hehir-Kwa, Conny M.A. van Ravenswaaij, Eugène T P Verwiel, Rita J.M. Dirks, Steven Van Vooren, Albert Schinzel, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout
Přispěvatelé: University of Zurich, de Leeuw, Nicole, Ethical, Legal, Social Issues in Genetics (ELSI)
Jazyk: angličtina
Rok vydání: 2013
Předmět:
medicine.medical_specialty
2716 Genetics (clinical)
10039 Institute of Medical Genetics
Association (object-oriented programming)
610 Medicine & health
Biology
Copy number variant
PHENOTYPE
Online Systems
Database
Chromosome (genetic algorithm)
1311 Genetics
Genetics
medicine
Humans
Registries
Genetics and epigenetic pathways of disease Translational research [NCMLS 6]
Genetics (clinical)
Web site
Chromosome Aberrations
Genome
Human
Online database
Array
General Medicine
Gene deletion
Data science
Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6]
Europe
ECARUCA
CLINICAL DELINEATION
Unbalanced chromosome aberration
Medical genetics
570 Life sciences
biology
Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
Databases
Nucleic Acid
Zdroj: European Journal of Medical Genetics, 56, 471-4
European journal of medical genetics, 56(9), 471-474. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 56, 9, pp. 471-4
ISSN: 1769-7212
Popis: The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database. (c) 2013 Elsevier Masson SAS. All rights reserved.
Databáze: OpenAIRE
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