Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copynumber variation (CNV). However, intragenic deletions or duplications-those including genomic intervals of a size smaller than a gene-have remained be
Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome
β Scribed by Pawandeep Dhami; Alison J. Coffey; Stephen Abbs; Joris R. Vermeesch; Jan P. Dumanski; Karen J. Woodward; Robert M. Andrews; Cordelia Langford; David Vetrie
- Book ID
- 117854614
- Publisher
- American Society of Human Genetics
- Year
- 2005
- Tongue
- English
- Weight
- 875 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/429588
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Genomic copy-number variations (CNVs) involving large DNA segments are known to cause many genetic disorders. Depending on the changes, they are predicted to lead either to decreased or an increased gene expression. However, the ability to detect smaller exonic copy-number changes has not been explo
## Abstract Highβresolution techniques for analysis of genome copy number (CN) enable the analysis of complex cancer somatic genetics. However, the analysis of these data is difficult, and failure to consider a number of issues in depth may result in false leads or unnecessary rejection of true pos