Assessing rare variation in complex traits [electronic resource] : design and analysis of genetic studies / Eleftheria Zeggini, Andrew Morris, editors.
Zeggini, Eleftheria, editor.; Morris, Andrew Paul, editor.
2015
QH431
Available Online

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Title Assessing rare variation in complex traits [electronic resource] : design and analysis of genetic studies / Eleftheria Zeggini, Andrew Morris, editors.
ISBN 9781493928248 electronic book
1493928244 electronic book
9781493928231
DOI https://doi.org/10.1007/978-1-4939-2824-8
Published New York : Springer, 2015.
Language English
Description 1 online resource (xi, 261 pages) : illustrations
Item Number 10.1007/978-1-4939-2824-8 doi
Call Number QH431
Dewey Decimal Classification 599.9/4
Summary This unique volume is the first to cover a wide range of design and analysis issues in genetic studies of rare variants, with contributions from experts in the field, through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. The book presents state-of-the-art methodology for rare variant detection and calling, imputation, and analysis in samples of unrelated individuals and families. It also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and rare variants studies in a meta-analysis framework. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyze and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but as this book illustrates, powerful methods to analyze the aggregation of low-frequency and rare variants are now starting to emerge.
Access Note Access limited to authorized users.
Source of Description Online resource; title from PDF title page (SpringerLink, viewed August 18, 2015).
Added Author Zeggini, Eleftheria, editor.
Morris, Andrew Paul, editor.
Available in Other Form Print version: 9781493928231
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Calling Rare Variants from Genotype Data
Calling Variants from Sequence Data
Rare Variant Quality Control
Rare Structural Variants
Functional Annotation of Rare Genetic Variants
The 1000 Genomes Project
The UK10K Project
Population Isolates
Natural Selection at Rare Variants
Collapsing Approaches for the Association Analysis of Rare Variants
Rare Variant Association Analysis: Beyond Collapsing Approaches
Significance Thresholds for Rare Variant Signals
Power of Rare Variant Aggregate Tests
Replicating Sequence-based Association Studies of Rare Variants
Meta-analysis of Rare Variants
Population Stratification of Rare Variants
Use of Appropriate Controls in Rare Variant Studies
Trans-ethnic Fine-mapping of Rare Causal Variants.

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