Detection and characterization of copy-number variants from exome sequencing in the DDD study

Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wi...

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Auteurs principaux:	Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2024-01-01
Collection:	Genetics in Medicine Open
Sujets:	Chromosomal microarrays Copy-number variation Exome sequencing Neurodovelopmental disease Rare disease
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2949774424009646
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