@article{973144f009d94081aa18a77c7f73fa04,
title = "An update on ECARUCA, the european cytogeneticists association register of unbalanced chromosome aberrations",
abstract = "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.",
keywords = "Array, Copy number variant, Database, ECARUCA, LDDB, Unbalanced chromosome aberration",
author = "{Vulto-van Silfhout}, {Anneke T.} and {van Ravenswaaij}, {Conny M.A.} and Hehir-Kwa, {Jayne Y.} and Verwiel, {Eug{\`e}ne T.P.} and Rita Dirks and {van Vooren}, Steven and Albert Schinzel and {de Vries}, {Bert B.A.} and {De Leeuw}, Nicole",
note = "Funding Information: The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net ) is the result of the ECARUCA project, which started in 2003 and was funded by grants of the European Union Fifth Framework Programme (The quality of life and management of living resources) from 2003 until 2005. ECARUCA is an online database that collects and provides information on rare unbalanced chromosome aberrations [1] . It contains curated information on both cytogenetic and submicroscopic aberrations in combination with detailed clinical data. Since the beginning of this century, there has been a tremendous increase in the diagnostic application of molecular techniques such as fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, array-based comparative genomic hybridisation, and single nucleotide polymorphism array, which led to the discovery of an increasing number of small chromosome aberrations. Collecting these aberrations in combination with detailed phenotype data aids the interpretation of chromosome aberrations in clinical practice as the knowledge on most of these small, rare, often non-recurrent chromosome aberrations is limited and only a minority of cases are published. There are currently a number of databases that collect genotype and phenotype information of individual cases with genomic imbalances, including the DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER) [2] , the International Standards for Cytogenomic Arrays (ISCA) [3] , and the ECARUCA database [1] . Details on these databases and their valuable contribution to the diagnostic interpretation of array data was recently described by de Leeuw et al. [4] . ECARUCA aims to collect only those genomic imbalances that are considered to be causative for the patient's clinical phenotype, most often these concerns rare, de novo aberrations. The objective of ECARUCA is to improve the knowledge of rare chromosome disorders both for medical and research purposes. This includes diagnostic interpretation of rare chromosome aberrations, counselling of families with rare chromosome aberrations, and delineation of novel genomic disorders, including the identification of the underlying causative genes. ",
year = "2013",
month = sep,
doi = "10.1016/j.ejmg.2013.06.010",
language = "English",
volume = "56",
pages = "471--474",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson s.r.l.",
number = "9",
}