標(biāo)題: Titlebook: Assessing Rare Variation in Complex Traits; Design and Analysis Eleftheria Zeggini,Andrew Morris Book 2015 Springer Science+Business Media [打印本頁] 作者: 挑染 時(shí)間: 2025-3-21 17:31
書目名稱Assessing Rare Variation in Complex Traits影響因子(影響力)
書目名稱Assessing Rare Variation in Complex Traits影響因子(影響力)學(xué)科排名
書目名稱Assessing Rare Variation in Complex Traits網(wǎng)絡(luò)公開度
書目名稱Assessing Rare Variation in Complex Traits網(wǎng)絡(luò)公開度學(xué)科排名
書目名稱Assessing Rare Variation in Complex Traits被引頻次
書目名稱Assessing Rare Variation in Complex Traits被引頻次學(xué)科排名
書目名稱Assessing Rare Variation in Complex Traits年度引用
書目名稱Assessing Rare Variation in Complex Traits年度引用學(xué)科排名
書目名稱Assessing Rare Variation in Complex Traits讀者反饋
書目名稱Assessing Rare Variation in Complex Traits讀者反饋學(xué)科排名
作者: 母豬 時(shí)間: 2025-3-21 23:34
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.作者: Parameter 時(shí)間: 2025-3-22 03:53 作者: Cabg318 時(shí)間: 2025-3-22 06:54 作者: 千篇一律 時(shí)間: 2025-3-22 11:07 作者: 連詞 時(shí)間: 2025-3-22 16:37 作者: 郊外 時(shí)間: 2025-3-22 17:10
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作者: mosque 時(shí)間: 2025-3-22 23:53 作者: 喚起 時(shí)間: 2025-3-23 01:59 作者: 變形詞 時(shí)間: 2025-3-23 05:47
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.作者: 態(tài)學(xué) 時(shí)間: 2025-3-23 09:56
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作者: 諷刺 時(shí)間: 2025-3-23 15:57 作者: 美食家 時(shí)間: 2025-3-23 20:55 作者: 漂白 時(shí)間: 2025-3-24 00:49
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作者: Banister 時(shí)間: 2025-3-24 04:35
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 作者: Recessive 時(shí)間: 2025-3-24 06:34 作者: ostensible 時(shí)間: 2025-3-24 12:20
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作者: 食品室 時(shí)間: 2025-3-24 16:15 作者: 四溢 時(shí)間: 2025-3-24 20:32 作者: neutral-posture 時(shí)間: 2025-3-25 01:50
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.作者: 步履蹣跚 時(shí)間: 2025-3-25 05:44 作者: Acetaldehyde 時(shí)間: 2025-3-25 09:11
https://doi.org/10.1007/978-1-4939-2824-8complex traits; genetics; genotype; polygenic traits; rare variation作者: 珊瑚 時(shí)間: 2025-3-25 14:22
978-1-4939-4518-4Springer Science+Business Media New York 2015作者: 無瑕疵 時(shí)間: 2025-3-25 17:40
Right to Food and “Tragedy” of the CommonsAccurate genotype calling of rare SNPs is an essential prerequisite for genetic studies. In this chapter we provide a systematic approach to derive high-quality SNP calls for this class of variants.作者: 法官 時(shí)間: 2025-3-25 20:21
Rare Variant Quality Control,Accurate genotype calling of rare SNPs is an essential prerequisite for genetic studies. In this chapter we provide a systematic approach to derive high-quality SNP calls for this class of variants.作者: deciduous 時(shí)間: 2025-3-26 00:16
Calling Variants from Sequence Data,f 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.作者: HARP 時(shí)間: 2025-3-26 04:28
Rare Variant Association Analysis: Beyond Collapsing Approaches, 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.作者: 神圣將軍 時(shí)間: 2025-3-26 09:24
y 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 gen978-1-4939-4518-4978-1-4939-2824-8作者: 冰河期 時(shí)間: 2025-3-26 12:45
Book 2015 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作者: omnibus 時(shí)間: 2025-3-26 20:49 作者: 不成比例 時(shí)間: 2025-3-26 21:06 作者: slipped-disk 時(shí)間: 2025-3-27 04:27 作者: lipids 時(shí)間: 2025-3-27 08:43 作者: 哀求 時(shí)間: 2025-3-27 12:09
Replicating Sequencing-Based Association Studies of Rare Variants,ee strategies is dependent on the proportions of causative variants discovered in stage 1, sequencing/genotyping errors, trait-specific genetic architecture, as well as how many variants within the identified gene region are available for genotyping on the exome array. With rigorous population genet作者: Conflict 時(shí)間: 2025-3-27 13:40 作者: 誘騙 時(shí)間: 2025-3-27 20:55
https://doi.org/10.1007/978-3-030-31430-9is chapter, we will describe how DNA microarrays work (see section “Microarray Technology”), give a brief overview of genotype calling algorithms (see section “Genotype Calling Algorithms”), and summarize the different algorithms designed for rare variants and how well they perform (see section “App作者: 羅盤 時(shí)間: 2025-3-28 00:31
Sue Wood-Griffiths,Suzanne Lawsonion at these variants. However, not all isolates are alike. Here, we briefly describe the differences among isolates in terms of size, time since foundation, and early demographic history, and we discuss how these differences affect strategies in genetic studies on those populations. We also present作者: dandruff 時(shí)間: 2025-3-28 02:22 作者: 祝賀 時(shí)間: 2025-3-28 08:08
Forecasting the Future of Food Emulsifiers,ee strategies is dependent on the proportions of causative variants discovered in stage 1, sequencing/genotyping errors, trait-specific genetic architecture, as well as how many variants within the identified gene region are available for genotyping on the exome array. With rigorous population genet作者: Outwit 時(shí)間: 2025-3-28 11:37
George Saravacos,Zacharias Maroulisiated tagging SNPs, it has paradoxically hampered the process of identifying the functional mutations as they cannot be distinguished from perfect or near-perfect surrogates. Trans-ethnic fine-mapping is a process that relies on disparate LD patterns in populations of diverse genetic ancestries to l作者: AGOG 時(shí)間: 2025-3-28 17:19 作者: 咯咯笑 時(shí)間: 2025-3-28 18:44 作者: 漫不經(jīng)心 時(shí)間: 2025-3-28 23:06 作者: Credence 時(shí)間: 2025-3-29 05:29
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作者: COUCH 時(shí)間: 2025-3-29 09:26
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作者: evasive 時(shí)間: 2025-3-29 13:46 作者: 新手 時(shí)間: 2025-3-29 17:54
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作者: alcoholism 時(shí)間: 2025-3-29 20:02 作者: 性上癮 時(shí)間: 2025-3-30 03:57
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作者: Fecundity 時(shí)間: 2025-3-30 07:42 作者: cacophony 時(shí)間: 2025-3-30 11:53
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作者: BRAWL 時(shí)間: 2025-3-30 16:02
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作者: incision 時(shí)間: 2025-3-30 17:32
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作者: 受人支配 時(shí)間: 2025-3-30 21:46 作者: 使虛弱 時(shí)間: 2025-3-31 03:52
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 作者: Anhydrous 時(shí)間: 2025-3-31 06:11
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作者: Bone-Scan 時(shí)間: 2025-3-31 11:40
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作者: 含糊 時(shí)間: 2025-3-31 15:58 作者: Inelasticity 時(shí)間: 2025-3-31 19:41
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作者: oxidant 時(shí)間: 2025-3-31 22:09 作者: pessimism 時(shí)間: 2025-4-1 04:00 作者: PLE 時(shí)間: 2025-4-1 07:26
Natural Selection at Rare Variants,copies of a dominant severely deleterious (evolutionarily lethal) rare variant are expected to represent independent mutational events and thus often lie on different haplotypes. These characteristics can potentially help to prioritize candidate causal rare variants in disease studies.
