Titlebook: Assessing Rare Variation in Complex Traits; Design and Analysis Eleftheria Zeggini,Andrew Morris Book 2015 Springer Science+Business Media

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Functional Annotation of Rare Genetic Variants,diseases and phenotypes. In the majority of cases though, the variants are predicted to have small to modest effect sizes, and, due to the technologies used, many of the signals discovered so far may not be the causal loci. As rare variation studies begin to explore the lower ranges of the allele fr

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The 1000 Genomes Project,rize genomic differences between individuals in a systematic fashion. Multiple studies were initiated with the aim of investigating human genetic variation (Pennisi 2007), most prominently the Human Genome Diversity Project (Jakobsson et al. 2008; Li et al. 2008; Cavalli-Sforza 2005) and the Interna

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Population Isolates,sible for rare recessive diseases, and recently to assess complex traits and common diseases, with particular emphasis on detecting founder causative variants. The existence of large data sets, well-ascertained pedigrees, and detailed clinical records are only a subset of the features that make cond

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Collapsing Approaches for the Association Analysis of Rare Variants,quency. Collapsing approaches overcome this power loss by testing for an association with an aggregate of rare variants. These tests pool information across the rare variants such that a single test is performed on the summary statistic, and are powerful tools, provided that certain conditions are s

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