title: HC Forum: a web site based on an international human cytogenetic database.
abstract: Familial structural rearrangements of chromosomes represent a factor of malformation risk that could vary over a large range, making genetic counseling difficult. However, they also represent a powerful tool for increasing knowledge of the genome, particularly by studying breakpoints and viable imbalances of the genome. We have developed a collaborative database that now includes data on more than 4100 families, from which we have developed a web site called HC Forum (http://HCForum.imag.fr). It offers geneticists assistance in diagnosis and in genetic counseling by assessing the malformation risk with statistical models. For researchers, interactive interfaces exhibit the distribution of chromosomal breakpoints and of the genome regions observed at birth in trisomy or in monosomy. Dedicated tools including an interactive pedigree allow electronic submission of data, which will be anonymously shown in a forum for discussions. After validation, data are definitively registered in the database with the email of the sender, allowing direct location of biological material. Thus HC Forum constitutes a link between diagnosis laboratories and genome research centers, and after 1 year, more than 700 users from about 40 different countries already exist.
authors: Genome Team, TIMC Laboratory, UMR 5525 CNRS-UJF, IMAG, Medical School of Grenoble, Domaine de la Merci, F38700 La Tronche Cedex, France. olivier.cohen@imag.fr
authors: O
authors: O
authors: Cohen
authors: M A
authors: MA
authors: Mermet
authors: J
authors: J
authors: Demongeot
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D016208:Databases, Factual; D005192:Family Health; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet; D010375:Pedigree