The Scripps Translational Science Institute, 3344 North Torrey Pines Court, Suite 300, La Jolla, California 92037, USA.
Nat Rev Genet. 2010 Nov;11(11):773-85. doi: 10.1038/nrg2867. Epub 2010 Oct 13.
The limitations of genome-wide association (GWA) studies that focus on the phenotypic influence of common genetic variants have motivated human geneticists to consider the contribution of rare variants to phenotypic expression. The increasing availability of high-throughput sequencing technologies has enabled studies of rare variants but these methods will not be sufficient for their success as appropriate analytical methods are also needed. We consider data analysis approaches to testing associations between a phenotype and collections of rare variants in a defined genomic region or set of regions. Ultimately, although a wide variety of analytical approaches exist, more work is needed to refine them and determine their properties and power in different contexts.
全基因组关联研究（GWA）的局限性在于关注常见遗传变异对表型的影响，这促使人类遗传学家考虑稀有变异对表型表达的贡献。高通量测序技术的日益普及使得对稀有变异的研究成为可能，但这些方法还不足以取得成功，还需要适当的分析方法。我们考虑了数据分析方法，用于检验表型与定义的基因组区域或一组区域中的稀有变异集合之间的关联。最终，尽管存在各种各样的分析方法，但仍需要做更多的工作来完善它们，并确定它们在不同情况下的特性和功效。
