02961namaa2200433uu 4500001001000000003000600010005001700016006001900033007001500052008004100067020002200108020001800130020001800148020001800166024003500184040001700219041000800236042000700244072001600251720002900267245008700296260003600383300003100419336002600450337002600476338003600502506005100538520158600589540006302175546001202238650002902250653002002279720002402299720002402323720002902347793001802376856011602394999001702510doab70499oapen20260305123947.0m     o  d        cr|mn|---annan210603s2015    xx |||||o     ||| 0|eng d  a978-1-4939-2824-8  a9781493928231  a9781493928248  a97814939451847 a10.1007/978-1-4939-2824-82doi  aoapencoapen0 aeng  adc 7aMFN2bicssc1 aZeggini, Eleftheria4edt00aAssessing Rare Variation in Complex TraitsbDesign and Analysis of Genetic Studies  aNew YorkbSpringer Naturec2015  a1 online resource (263 p.)  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier0 aFree-to-readfUnrestricted online access2star  aThis 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.  aAll rights reserveduhttp://oapen.org/content/about-rights  aEnglish 7aMedical genetics2bicssc  agenetic studies1 aMorris, Andrew4edt1 aMorris, Andrew4oth1 aZeggini, Eleftheria4oth0 aDOAB Library.40uhttps://directory.doabooks.org/handle/20.500.12854/7049970zFree-to-read: DOAB: description of the publication  c92801d92801