An update on ECARUCA, the european cytogeneticists association register of unbalanced chromosome aberrations

Anneke T. Vulto-van Silfhout, Conny M.A. van Ravenswaaij, Jayne Y. Hehir-Kwa, Eugène T.P. Verwiel, Rita Dirks, Steven van Vooren, Albert Schinzel, Bert B.A. de Vries, Nicole De Leeuw

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)471-474
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume56
Issue number9
DOIs
Publication statusPublished - Sept 2013
Externally publishedYes

Keywords

  • Array
  • Copy number variant
  • Database
  • ECARUCA
  • LDDB
  • Unbalanced chromosome aberration

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