Detection of clinically relevant exonic copy-number changes by array CGH.


Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copy-number variation (CNV). However, intragenic deletions or duplications--those including genomic intervals of a size smaller than a gene--have remained beyond the detection limit of most clinical aCGH analyses… (More)
DOI: 10.1002/humu.21360


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@article{Boone2010DetectionOC, title={Detection of clinically relevant exonic copy-number changes by array CGH.}, author={Philip M Boone and Carlos A Bacino and Chad A. Shaw and Patricia A Eng and Patricia M Hixson and Amber Nolen Pursley and Sung-Hae Lee Kang and Yaping Yang and Joanna Wiszniewska and Beata Anna Nowakowska and Daniela del Gaudio and Zhilian Xia and Gayle Simpson-Patel and Ladonna L Immken and James Bryan Gibson and Anne C-H Tsai and Jennifer A Bowers and Tyler E Reimschisel and Christian P Schaaf and Lorraine Potocki and Fernando Scaglia and Tomasz Gambin and Maciej Sykulski and Magdalena Bartnik and Katarzyna Derwinska and Barbara Wisniowiecka-Kowalnik and Seema R. Lalani and Frank Probst and Weimin Bi and Arthur L Beaudet and Ankita Patel and James R Lupski and Sau Wai Cheung and Pawel Stankiewicz}, journal={Human mutation}, year={2010}, volume={31 12}, pages={1326-42} }