Assessing Rare Variation in Complex Traits

Design and Analysis of Genetic Studies

  • Eleftheria Zeggini
  • Andrew Morris

Table of contents

  1. Front Matter
    Pages i-xi
  2. Jacqueline I. Goldstein, Benjamin M. Neale
    Pages 1-13
  3. Andy Rimmer
    Pages 15-31
  4. Anubha Mahajan, Neil Robertson
    Pages 33-43
  5. Menachem Fromer, Shaun Purcell
    Pages 45-56
  6. Graham R. S. Ritchie, Paul Flicek
    Pages 57-70 Open Access
  7. Adam Auton, Tovah Salcedo
    Pages 71-85
  8. Ilenia Zara
    Pages 107-122
  9. Yali Xue, Chris Tyler-Smith
    Pages 123-133
  10. Jennifer L. Asimit, Andrew Morris
    Pages 135-148
  11. Celia M. T. Greenwood, ChangJiang Xu, Antonio Ciampi
    Pages 169-183
  12. Manuel A. Rivas, Loukas Moutsianas
    Pages 185-199
  13. Dajiang J. Liu, Suzanne M. Leal
    Pages 201-213
  14. Ioanna Tachmazidou, Eleftheria Zeggini
    Pages 215-226
  15. Emmanuelle Génin, Sébastien Letort, Marie-Claude Babron
    Pages 227-237
  16. Audrey E. Hendricks
    Pages 239-252
  17. Xu Wang, Yik-Ying Teo
    Pages 253-261
  18. Graham R. S. Ritchie, Paul Flicek
    Pages E1-E1

About this book


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.

The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via


complex traits genetics genotype polygenic traits rare variation

Editors and affiliations

  • Eleftheria Zeggini
    • 1
  • Andrew Morris
    • 2
  1. 1.Wellcome Trust Sanger InstituteHinxtonUK
  2. 2.Department of BiostatisticsUniversity of LiverpoolLiverpoolUK

Bibliographic information