Genetic architecture of reciprocal CNVs.
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ABSTRACT:
SUBMITTER: Golzio C
PROVIDER: S-EPMC3740179 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Publications
Genetic architecture of reciprocal CNVs.
Golzio Christelle C Katsanis Nicholas N
Current opinion in genetics & development 20130605 3
Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to recombination events that can lead to both deletions and duplications. Phenotypic analyses of patients with such reciprocal CNVs have revealed in ...[more]
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