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

態(tài)學(xué)

Bj?rn Bergenst?hl,Patrick T. Spiceration 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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漂白

https://doi.org/10.1007/978-1-4757-2662-6arily serves the purpose of combining data to increase power to obtain statistical evidence of association between disease and a single variant that would have otherwise escaped detection, for example because of its small effect size. Furthermore, in the era ofwhole-exome and whole-genome sequencing

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https://doi.org/10.1007/978-1-4757-2662-6aphic 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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George Saravacos,Zacharias Maroulis 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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Fabio Pollice,Valentina Albanese,Giulia Ursof variant calling, an introduction to sequence data and the various data formats used to store it, a detailed description of current variant-calling methods and some popular software tools, and a summary.