A copy number variation map of the human genome
نویسندگان
چکیده
منابع مشابه
Copy-number variation: the end of the human genome?
Copy-number variation (CNV)--the presence of additional or missing segments of chromosomes in some individuals--has been found to be abundant in humans and adds another dimension of variation to the genome. Copy-number variants have already been associated with some diseases and disease susceptibilities and are likely to prove as significant as sequence polymorphisms in this respect. Changes in...
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DNA copy number variation (CNV) was recently discovered as a significant part of human genetic variation. This variation affects genes as well as intergenic regions. Herein, current insight into the effects of CNV on gene expression is summarized. The consequences of intergenic CNVs are poorly understood. For CNV affecting genes, a dosage compensation mechanism seems to be applied on a subset o...
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We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse. Probes on the array represented 18,763 autosomal and X-linked genes, and intergenic, sub-telomeric and chrY sequences. We identified 258 CNV regions (CNVRs) across all autosomes, chrX and chrUn, but not in ...
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Submicroscopic (less than 2 Mb) segmental DNA copy number changes are a recently recognized source of genetic variability between individuals. The biological consequences of copy number variants (CNVs) are largely undefined. In some cases, CNVs that cause gene dosage effects have been implicated in phenotypic variation. CNVs have been detected in diverse species, including mice and humans. Publ...
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Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various geno...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2015
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3871