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

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發(fā)表于 2025-3-21 17:31:13 | 只看該作者 |倒序瀏覽 |閱讀模式
期刊全稱Assessing Rare Variation in Complex Traits
期刊簡稱Design and Analysis
影響因子2023Eleftheria Zeggini,Andrew Morris
視頻videohttp://file.papertrans.cn/164/163275/163275.mp4
發(fā)行地址Covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation.Unique in discussing a wide range of design and analysis issues in ge
圖書封面Titlebook: Assessing Rare Variation in Complex Traits; Design and Analysis  Eleftheria Zeggini,Andrew Morris Book 2015 Springer Science+Business Media
影響因子.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 including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework..Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play animportant role in complex human phenotypes.?This book?covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation.?In many areas of gen
Pindex Book 2015
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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.
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Sue Wood-Griffiths,Suzanne Lawsonsible 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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https://doi.org/10.1007/978-3-030-29187-7 may be underpowered in certain scenarios, and approaches that do not directly collapse genotypes of multiple rare variants have been proposed. In this chapter, we describe several non-collapsing approaches, summarize their common and unique features, and discuss their pros and cons.
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