Assessing Rare Variation in Complex Traits

Design and Analysis of Genetic Studies

Editors: Zeggini, Eleftheria, Morris, Ph.D., Andrew (Eds.)

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  • Covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation
  • Unique in discussing a wide range of design and analysis issues in genetic studies of rare variants
  • Collaborations include many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENes
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eBook 103,52 €
price for Spain (gross)
  • ISBN 978-1-4939-2824-8
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  • Immediate eBook download after purchase
Hardcover 145,59 €
price for Spain (gross)
  • ISBN 978-1-4939-2823-1
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  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
Softcover 126,34 €
price for Spain (gross)
  • ISBN 978-1-4939-4518-4
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  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
About this book

This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework.

Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play an important role in complex human phenotypes. 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 analyse 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 powerful methods to analyse 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 link.springer.com.

Table of contents (19 chapters)

Table of contents (19 chapters)

Buy this book

eBook 103,52 €
price for Spain (gross)
  • ISBN 978-1-4939-2824-8
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover 145,59 €
price for Spain (gross)
  • ISBN 978-1-4939-2823-1
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
Softcover 126,34 €
price for Spain (gross)
  • ISBN 978-1-4939-4518-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
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Bibliographic Information

Bibliographic Information
Book Title
Assessing Rare Variation in Complex Traits
Book Subtitle
Design and Analysis of Genetic Studies
Editors
  • Eleftheria Zeggini
  • Andrew Morris, Ph.D.
Copyright
2015
Publisher
Springer-Verlag New York
Copyright Holder
Springer Science+Business Media New York
eBook ISBN
978-1-4939-2824-8
DOI
10.1007/978-1-4939-2824-8
Hardcover ISBN
978-1-4939-2823-1
Softcover ISBN
978-1-4939-4518-4
Edition Number
1
Number of Pages
XI, 263
Number of Illustrations
10 b/w illustrations, 26 illustrations in colour
Topics