Detection of clinically relevant exonic copy-number changes by array CGH
Detection of clinically relevant exonic copy-number changes by array CGH is a scholarly work by Tomasz Gambin, Philip M. Boone, Chad Shaw, James R. Lupski, Yaping Yang, Paweł Stankiewicz, Carlos A Bacino, Beata Nowakowska, Fernando Scaglia, Ankita Patel, Seema R Lalani, LaDonna L Immken, Sung-Hae L Kang, Patricia A Eng, Sau Wai Cheung, and Zhilian Xia, published in 2010 in ''Human Mutation''. The main subjects of the publication include copy-number variation, Copy number analysis, exon, biology, gene, polyploidy, gene dosage, genome, comparative genomic hybridization, phenotype, computational biology, gene duplication, human genome, genetics, and development of the heart. The authors designed an array with exonic coverage of selected disease and candidate genes and used it clinically to identify losses or gains throughout the genome involving at least one exon and as small as several hundred base pairs in size.