Genomic copy number variation, human health, and disease
نویسندگان
چکیده
منابع مشابه
Genomic copy number variation, human health, and disease.
Despite the long recognised effects of chromosomal structural abnormalities and completion of the Human Genome Project, much of the structural variation in the genome has gone unrecognised until recently. Deletions and duplications of DNA strands of between a few hundred bp and several million bp-collectively referred to as copy number variants-are now known to be widespread. Since 2007, rigoro...
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Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-s...
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ژورنال
عنوان ژورنال: The Lancet
سال: 2009
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(09)60249-x