Article
Haplotype phasing and inheritance of copy number variants in nuclear families.
PloS one - 1 Jan 2015
Palta Priit, Kaplinski Lauris, Nagirnaja Liina, Veidenberg Andres, Möls Märt, Nelis Mari, Esko Tõnu, Metspalu Andres, Laan Maris, Remm Maido
Abstract excerpt
DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highli...
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