Assessing Rare Variation in Complex Traits : Design and Analysis of Genetic Studies / edited by Eleftheria Zeggini, Andrew Morris.

Format:

Book

Contributor:

Zeggini, Eleftheria, editor.

Morris, Andrew Paul, editor.

SpringerLink (Online service)

Language:

English

Subjects (All):

Medicine.

Human genetics.

Molecular biology.

Statistics.

Physical Description:

1 online resource

Edition:

First edition 2015.

Contained In:

Springer eBooks

Place of Publication:

New York, NY : Springer New York : Imprint: Springer, 2015.

System Details:

Mode of Access: World Wide Web.

text file PDF

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.

Contents:

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.

Other Format:

Printed edition:

ISBN:

9781493928248

Access Restriction:

Restricted for use by site license.