Hannah Grimes

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Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases

Jun 5, 2024 | onlinelibrary.wiley.com | Pamela Bowman |Hannah Grimes |Ian Berry |Anthony R. Dallosso

array CGH microarray based comparative genomic hybridization CNV copy number variant WGS whole genome sequencing What this paper adds Standard of care laboratory tests may fail to detect/characterize copy number variants (CNVs).

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