Assessing Rare Variation in Complex Traits

Chapter 1 Calling Rare Variants from Genotype Data

Chapter 2 Calling Variants from Sequence Data

Chapter 3 Rare Variant Quality Control

Chapter 4 Rare Structural Variants

Chapter 5 Functional Annotation of Rare Genetic Variants

Chapter 6 The 1000 Genomes Project

Chapter 7 The UK10K Project: 10,000 UK Genome Sequences—Accessing the Role of Rare Genetic Variants in Health and Disease

Chapter 8 Population Isolates

Chapter 9 Natural Selection at Rare Variants

Chapter 10 Collapsing Approaches for the Association Analysis of Rare Variants

Chapter 12 Significance Thresholds for Rare Variant Signals

Chapter 13 Power of Rare Variant Aggregate Tests

Chapter 14 Replicating Sequencing-Based Association Studies of Rare Variants

Chapter 15 Meta-Analysis of Rare Variants

Chapter 16 Population Stratification of Rare Variants

Chapter 17 Use of Appropriate Controls in Rare-Variant Studies

Chapter 18 Trans-Ethnic Fine-Mapping of Rare Causal Variants