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dc.contributor.editorZeggini, Eleftheria
dc.contributor.editorMorris, Andrew
dc.date.accessioned2021-06-02T09:50:10Z
dc.date.available2021-06-02T09:50:10Z
dc.date.issued2015
dc.identifier.urihttps://library.oapen.org/handle/20.500.12657/48885
dc.description.abstractThis 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.en_US
dc.languageEnglishen_US
dc.subject.classificationbic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical geneticsen_US
dc.subject.classificationthema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical geneticsen_US
dc.subject.othergenetic studiesen_US
dc.titleAssessing Rare Variation in Complex Traitsen_US
dc.title.alternativeDesign and Analysis of Genetic Studiesen_US
dc.typebook
oapen.identifier.doi10.1007/978-1-4939-2824-8en_US
oapen.relation.isPublishedBy6c6992af-b843-4f46-859c-f6e9998e40d5en_US
oapen.relation.hasChapter971e9041-fed8-434b-a64f-5dc43f62b390
oapen.relation.isbn9781493928231en_US
oapen.relation.isbn9781493945184en_US
oapen.relation.isbn9781493928248en_US
oapen.pages263en_US
oapen.place.publicationNew Yorken_US


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