Assessing Rare Variation in Complex Traits
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 prov...
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| Ձևաչափ: | Online |
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Springer Nature
2021
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| Առցանց հասանելիություն: | OCN: 918841136 |
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| _version_ | 1869528233737715712 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-70499 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Springer Nature |
| publisherStr | Springer Nature |
| record_format | ojs |
| spelling | doab-20.500.12854ir-704992025-08-13T14:11:58Z Assessing Rare Variation in Complex Traits Zeggini, Eleftheria Morris, Andrew genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics 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. 2021-06-03T02:07:27Z 2021-06-03T02:07:27Z 2021-06-02T09:50:10Z 2015 book OCN: 918841136 https://library.oapen.org/handle/20.500.12657/48885 9781493928231 9781493945184 9781493928248 https://directory.doabooks.org/handle/20.500.12854/70499 eng open access Springer Nature 10.1007/978-1-4939-2824-8 10.1007/978-1-4939-2824-8 9fa3421d-f917-4153-b9ab-fc337c396b5a Chapter Functional Annotation of Rare Genetic Variants 9781493928231 9781493945184 9781493928248 263 New York open access |
| spellingShingle | genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Assessing Rare Variation in Complex Traits |
| title | Assessing Rare Variation in Complex Traits |
| title_full | Assessing Rare Variation in Complex Traits |
| title_fullStr | Assessing Rare Variation in Complex Traits |
| title_full_unstemmed | Assessing Rare Variation in Complex Traits |
| title_short | Assessing Rare Variation in Complex Traits |
| title_sort | assessing rare variation in complex traits |
| topic | genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | OCN: 918841136 |