Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-09

AUTHORS

Steven Van Vooren, Bert Coessens, Bart De Moor, Yves Moreau, Joris R. Vermeesch

ABSTRACT

Genome-wide array comparative genomic hybridization screening is uncovering pathogenic submicroscopic chromosomal imbalances in patients with developmental disorders. In those patients, imbalances appear now to be scattered across the whole genome, and most patients carry different chromosomal anomalies. Screening patients with developmental disorders can be considered a forward functional genome screen. The imbalances pinpoint the location of genes that are involved in human development. Because most imbalances encompass regions harboring multiple genes, the challenge is to (1) identify those genes responsible for the specific phenotype and (2) disentangle the role of the different genes located in an imbalanced region. In this review, we discuss novel tools and relevant databases that have recently been developed to aid this gene discovery process. Identification of the functional relevance of genes will not only deepen our understanding of human development but will, in addition, aid in the data interpretation and improve genetic counseling. More... »

PAGES

642-649

Identifiers

URI

http://scigraph.springernature.com/pub.10.1097/gim.0b013e318145b27b

DOI

http://dx.doi.org/10.1097/gim.0b013e318145b27b

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004040238

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17873653


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