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

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Significance Thresholds for Rare Variant Signals,ation between the resulting genetic variation and a phenotype of interest. Due to the rarity of most of the identified variants, standard analytic practice now includes, in addition to single-variant tests, a new set of statistical tests that consider simultaneously all genetic variability in a smal

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Power of Rare Variant Aggregate Tests,ed statistically significant if it has been predicted as unlikely to have occurred by chance alone, according to a pre-determined significance level. The significance level may reflect a nominal significance level (e.g. . = 0. 05) and the number of independent tests, ., applied in the study, e.g. in

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Replicating Sequencing-Based Association Studies of Rare Variants, significant findings in stage 1 through replication in an independent stage 2 sample is necessary to avoid reporting spurious results. For gene-based mapping of rare variants, where rare variants within a region are analyzed in aggregate, three replication strategies are possible: (1) variant-based

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Population Stratification of Rare Variants,aphic scales. Patterns of stratification are influenced by different phenomena and found to vary between common and rare variants. In the different studies performed so far and reviewed in this chapter, rare variants were found to display stronger stratification patterns. This is an important issue

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Use of Appropriate Controls in Rare-Variant Studies,only sequence or genotype cases and to plan on using external, perhaps publically available control data. When using rare-variant genotyping chips, gathering and using internal controls may be the obvious choice as the cost per subject is relatively low although there is still the cost of recruiting

Bone-Scan

Trans-Ethnic Fine-Mapping of Rare Causal Variants, traits. However, the findings thus far have mostly been limited to variants that are present at more than 5 % frequency in the population. Even when considered jointly, these variants generally explain only a small proportion of the disease heritability, especially since they are mostly tagging sin

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discussing a wide range of design and analysis issues in ge.This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia inc

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