CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies.
CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies.
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DOI：
10.1186/1471-2105-11-527
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发表时间：
2010-10-21
影响因子：
3
通讯作者：
Zeggini E
中科院分区：
文献类型：
--
作者：
Lawrence R;Day-Williams AG;Elliott KS;Morris AP;Zeggini E
全基因组关联研究已成功找到影响共同性状的共同变异。然而，这些关联仅占性状遗传力的一小部分。该领域已转向研究低频和罕见变异，这些变异现在被广泛认为是假定的复杂性状决定因素。尽管人们越来越关注检查低频和罕见变异在复杂疾病易感性中的作用，但缺乏用户友好的分析包来实施强大的关联测试来分析罕见变异。我们开发了CCRaVAT（病例控制稀有变异分析工具）和QuTie（数量性状）两种软件工具，能够对低频和稀有变异进行高效的大规模分析。这两个程序都实施了一种折叠方法，用于检查感兴趣基因座上低频和罕见变异的积累，该方法比单一变异分析更强大。 CCRaVAT 进行病例对照分析，而 QuTie 则用于连续性状分析。 CCRaVAT 和 QuTie 是易于使用的软件工具，允许用户对二元性状和数量性状的低频和罕见变异进行全基因组关联分析。该软件免费提供，为遗传学界提供了对罕见遗传变异进行关联分析的资源。
Genome-wide association studies have been successful in finding common variants influencing common traits. However, these associations only account for a fraction of trait heritability. There has been a shift in the field towards studying low frequency and rare variants, which are now widely recognised as putative complex trait determinants. Despite this increasing focus on examining the role of low frequency and rare variants in complex disease susceptibility, there is a lack of user-friendly analytical packages implementing powerful association tests for the analysis of rare variants. We have developed two software tools, CCRaVAT (Case-Control Rare Variant Analysis Tool) and QuTie (Quantitative Trait), which enable efficient large-scale analysis of low frequency and rare variants. Both programs implement a collapsing method examining the accumulation of low frequency and rare variants across a locus of interest that has more power than single variant analysis. CCRaVAT carries out case-control analyses whereas QuTie has been developed for continuous trait analysis. CCRaVAT and QuTie are easy to use software tools that allow users to perform genome-wide association analysis on low frequency and rare variants for both binary and quantitative traits. The software is freely available and provides the genetics community with a resource to perform association analysis on rarer genetic variants.
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通讯作者：
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