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P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis

Year: 2024
Type: article
Abstract: Disease-causing copy-number variants (CNVs) often encompass large genomic regions affecting multiple contiguous genes. However, they may also affect single protein-coding and disease-associated genes, causing Mendelian disorders. Genic CNVs are usually challenging to detect due to their small size. Herein, data from CNVs affecting single protein-coding genes captured by high-resolution exon-targeted chromosomal microarray analysis (CMA) will be discussed.
DOI: 10.1016/j.gimo.2024.101499
Authors: Matthew Hoi Kin Chau, Stephanie Anderson, Rodger Song, Lance Cooper, Patricia Ward, Bo Yuan, Pawel Stankiewicz, Sau Cheung, Liesbeth Vossaert, Yue Wang, Nichole Owen, Janice Smith, Carlos Bacino, Katharina Schulze, Weimin Bi
Language: English
Subfield: Genetics
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392607097
FWCI: 0.241
Cites:
Cited by: 1
Related to: 10