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

Andrew Morris

ISBN 10: 1493928236 / ISBN 13: 9781493928231

Editore: Springer New York, Springer New York, 2015

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Codice articolo 9781493928231

Dati bibliografici

• Titolo: Assessing Rare Variation in Complex Traits : Design and Analysis of Genetic Studies
• Editore: Springer New York, Springer New York
• Data di pubblicazione: 2015
• Lingua: Inglese
• ISBN 10: 1493928236
• ISBN 13: 9781493928231
• Rilegatura: Buch
• Condizione: Neu
• Dimensioni: 241 L x 160 A x 21 P (millimetri) 241 millimetri di larghezza per 160 millimetri di altezza per 21 millimetri di profondità
• Peso: 582 grammi

Descrizione articolo

Riassunto

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.

Dalla quarta di copertina

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.