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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.
For the millions who remain curious about the world around them, but gained little from science at school, this book offers a way forward. Based on live discussions with adults from all walks of life, each chapter begins with an everyday experience, like swallowing a pill or watching a bee on a flower. The main scientific ideas underlying each topic are then explored, so that understanding of a set of fundamental concepts builds up gradually throughout the book. In contrast to more traditional approaches to science learning, topics range freely across the subject areas. The story of Covid, for example includes aspects of biology, chemistry, mathematics and social behaviour. Plain English is used throughout and mathematical expressions are avoided. Key points are illustrated with clear diagrams and photographs. By drawing on questions and perspectives of ordinary people, the book offers an introduction to basic ideas in science as a whole, rather than any one particular subject. For the adult wishing to make good a gap in their understanding it provides a starting point for entering the rich world of popular science.
For the millions who remain curious about the world around them, but gained little from science at school, this book offers a way forward. Based on live discussions with adults from all walks of life, each chapter begins with an everyday experience, like swallowing a pill or watching a bee on a flower. The main scientific ideas underlying each topic are then explored, so that understanding of a set of fundamental concepts builds up gradually throughout the book. In contrast to more traditional approaches to science learning, topics range freely across the subject areas. The story of Covid, for example includes aspects of biology, chemistry, mathematics and social behaviour. Plain English is used throughout and mathematical expressions are avoided. Key points are illustrated with clear diagrams and photographs. By drawing on questions and perspectives of ordinary people, the book offers an introduction to basic ideas in science as a whole, rather than any one particular subject. For the adult wishing to make good a gap in their understanding it provides a starting point for entering the rich world of popular science.
The first serious study of music in independent schools, which bears eloquent witness to a high standard achieved over the last fifty years. This is the first serious study of music in independent schools. The high standard of musical work in such schools has long been known but now Andrew Morris and his team have provided up-to-date information. There are contributions from seven individual schools - Bedford, Dulwich, Eton, Gresham's, St. Paul's, Uppingham and Worksop - as well as chapters about Girls' Schools, Preparatory Schools, Choir Schools and Specialist Schools. Andrew Morris was Director of Music at Bedford School for thirty-two years and was President of the Music Masters and Mistresses Association in 1996-97. He is thus ideally placed to mastermind a substantial compendium which is eminently readable andabsorbing. The book includes material from Bernarr Rainbow's study, Music in the English Public School (1990) and brings it up to date. As a historian, Rainbow looked back at how music developed in independent schools. Progress was slow, even tortuous, but Rainbow's fascinating documents, supported by his commentary, show how idealism won through, and Morris and his colleagues bear eloquent witness to the very positive development over the last fifty years. ANDREW MORRIS taught in secondary modern, grammar and comprehensive schools in London before becoming Director of Music at Bedford School for thirty-two years. He was President of the Music Masters' and Mistresses' Association from 1996-97 and President of the RAM Club at the Royal Academy of Music 2005-06. He has examined for the ABRSM for over thirty years. BERNARR RAINBOW (1914-1998) is widely recognised as the leading authority on the history of music education. His seminal books are all published by Boydell and are listed on the back pages of this volume. His series of Classic Texts in Music Education is a major resource and in 1997 he foundedthe Bernarr Rainbow Trust which supports projects in music education. CONTRIBUTORS: Catherine Beddison, Elizabeth Blackford, Timothy Daniell, Richard Mayo, James Peschek, Alastair Sampson, Graham Smallbone, Jonathan Varcoe, Myfanwy Walters, Nathan Waring, Robert Weaver, Hilary Webster.
This Handbook illustrates a selection of drawings of flowers from the collection at the Fitzwilliam Museum. The book is arranged chronologically and ranges from the fifteenth century to the present day. Beginning with illustrations from the borders and backgrounds of illuminated manuscripts, the selection traces the form through attempts at accurate delineation of form during the Renaissance to the more scientific approach of the later seventeenth and early eighteenth centuries. It concludes with several contemporary examples of flower drawings to show that the tradition continues. The illustrations bring out the stunning detail and colour characteristic of the art-form.
This lavishly illustrated book brings together a selection of ancient Egyptian works of art of outstanding quality and interest, ranging from large sculptures to small decorative objects. The introduction and full descriptions explain their significance, style, material, and mode of manufacture within the framework of the life and religious beliefs of the royal and private owners for whom they were made. Readers will find much of interest among the numerous objects, all of which are shown in color and many published here for the first time.
According to the National Institute of Health, a genome-wide
association study is defined as any study of genetic variation
across the entire human genome that is designed to identify genetic
associations with observable traits (such as blood pressure or
weight), or the presence or absence of a disease or condition.
Whole genome information, when combined with clinical and other
phenotype data, offers the potential for increased understanding of
basic biological processes affecting human health, improvement in
the prediction of disease and patient care, and ultimately the
realization of the promise of personalized medicine. In addition,
rapid advances in understanding the patterns of human genetic
variation and maturing high-throughput, cost-effective methods for
genotyping are providing powerful research tools for identifying
genetic variants that contribute to health and disease. (good
paragraph)
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.
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