02961namaa2200433uu 4500 doab70499 oapen 20260305123947.0 m o d cr|mn|---annan 210603s2015 xx |||||o ||| 0|eng d 978-1-4939-2824-8 9781493928231 9781493928248 9781493945184 10.1007/978-1-4939-2824-8 doi oapen oapen eng dc MFN bicssc Zeggini, Eleftheria edt Assessing Rare Variation in Complex Traits Design and Analysis of Genetic Studies New York Springer Nature 2015 1 online resource (263 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier Free-to-read Unrestricted online access star 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. All rights reserved http://oapen.org/content/about-rights English Medical genetics bicssc genetic studies Morris, Andrew edt Morris, Andrew oth Zeggini, Eleftheria oth DOAB Library. https://directory.doabooks.org/handle/20.500.12854/70499 0 Free-to-read: DOAB: description of the publication 92801 92801