期刊
CLINICAL GENETICS
卷 77, 期 3, 页码 201-213出版社
WILEY
DOI: 10.1111/j.1399-0004.2009.01342.x
关键词
gene copy number; gene deletion; gene duplication; human common diseases; human genomic disorders
资金
- Medical Research Council [MC_U120097112, MC_U120061454] Funding Source: Medline
- MRC [MC_U120097112, MC_U120061454] Funding Source: UKRI
Variation in gene copy number is increasingly recognized as a common, heritable source of inter-individual differences in genomic sequence. The role of copy number variation is well established in the pathogenesis of rare genomic disorders. More recently, germline and somatic copy number variation have been shown to be important pathogenic factors in a range of common diseases, including infectious, autoimmune and neuropsychiatric diseases and cancer. In this review, we describe the range of methods available for measuring copy number variants (CNVs) in individuals and populations, including the limitations of presently available assays, and highlight some key examples of common diseases in which CNVs have been shown clearly to have a pathogenic role. Although there has been major progress in this field in the last 5 years, understanding the full contribution of CNVs to the genetic basis of common diseases will require further studies, with more accurate CNV assays and larger cohorts than have presently been completed.
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