Extending genome-wide association studies to copy-number variation
Extending genome-wide association studies to copy-number variation
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DOI：
10.1093/hmg/ddn282
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发表时间：
2008-10-15
影响因子：
3.5
通讯作者：
McCarroll, Steven A.
中科院分区：
文献类型：
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作者：
McCarroll, Steven A.
欣赏人类基因组拷贝数（CNV）对临床表型的贡献是未来几年引人入胜的遗传学挑战之一。越来越有可能通过在SNP（单核苷酸多态性）阵列的设计和分析中进行的创新来进行诸如全基因组关联研究（GWAS）的扩展以及确定基因组位置和种群基因特性方面的进展，从而实现了这类研究。在人口中分离的CNV。 GWAS向CNV的扩展已经导致从头发现与常见疾病风险有关的遗传CNV。这篇综述将讨论新方法，最新发现以及扩展GWAS所涉及的分析挑战，以欣赏CNV对人类表型的贡献。
Appreciating the contribution of human genome copy-number variation (CNV) to clinical phenotypes is one of the compelling genetics challenges of the coming years. It is increasingly possible to pursue such investigations as an extension of genome-wide association studies (GWAS), enabled by innovations in the design and analysis of SNP (single nucleotide polymorphism) arrays and by progress in determining the genomic locations and population-genetic properties of the CNVs that segregate in the human population. Extensions of GWAS to CNV have already resulted in discoveries of both de novo and inherited CNV that are associated with risk of common disease. This review will discuss new approaches, recent findings and the analytical challenges involved in expanding GWAS to appreciate the contribution of CNV to human phenotypes.