Assessing Rare Variation in Complex Traits Design and Analysis of Genetic Studies /

• Corporate Author: SpringerLink (Online service)
• Other Authors: Zeggini, Eleftheria (Editor), Morris, Andrew (Editor)
• Format: Electronic eBook
• Language: English
• Published: New York, NY : Springer New York : Imprint: Springer, 2015.
• Edition: 1st ed. 2015.
• Subjects: Medicine.; Human genetics.; Molecular biology.; Statistics.; Biomedicine.; Human Genetics.; Molecular Medicine.; Statistics for Life Sciences, Medicine, Health Sciences.

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 met...

Table of 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.