Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

Background Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect due to their small sizes. Methods A custom com...

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Publicado en:	Clinical Chemistry Vol. 71; no. 1; pp. 141 - 155
Autores principales:	Chau, Matthew Hoi Kin, Anderson, Stephanie A, Song, Rodger, Cooper, Lance, Ward, Patricia A, Yuan, Bo, Shaw, Chad, Stankiewicz, Paweł, Cheung, Sau Wai, Vossaert, Liesbeth, Wang, Yue, Owen, Nichole M, Smith, Janice, Bacino, Carlos A, Schulze, Katharina V, Bi, Weimin
Formato:	Journal Article
Publicado:	Oxford University Press / USA Jan2025
Acceso en línea:	Ver este registro en EBSCOhost