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 11 Rare Variant Association Analysis: Beyond Collapsing Approaches

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 18 Trans-Ethnic Fine-Mapping of Rare Causal Variants