| 000 | 03032namaa2200457uu 4500 | ||
|---|---|---|---|
| 001 | oapen48885 | ||
| 003 | oapen | ||
| 005 | 20240507100216.0 | ||
| 006 | m o d | ||
| 007 | cr|mn|---annan | ||
| 008 | 210602s2015 xx |||||o ||| 0|eng d | ||
| 020 | _a9781493928248 | ||
| 020 | _a9781493928231 | ||
| 020 | _a9781493928248 | ||
| 020 | _a9781493945184 | ||
| 024 | 7 |
_a10.1007/978-1-4939-2824-8 _2doi |
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| 040 |
_aoapen _coapen |
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| 041 | 0 | _aeng | |
| 042 | _adc | ||
| 072 | 7 |
_aMFN _2bicssc |
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| 072 | 7 |
_aMFN _2bicssc |
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| 100 | 1 |
_aZeggini, Eleftheria _4edt |
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| 245 | 1 | 0 |
_aAssessing Rare Variation in Complex Traits _bDesign and Analysis of Genetic Studies |
| 260 |
_aNew York _bSpringer Nature _c2015 |
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| 300 | _a1 online resource (263 p.) | ||
| 336 |
_atext _btxt _2rdacontent |
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| 337 |
_acomputer _bc _2rdamedia |
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| 338 |
_aonline resource _bcr _2rdacarrier |
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| 506 | 0 |
_aFree-to-read _fUnrestricted online access _2star |
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| 520 | _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. | ||
| 540 |
_aAll rights reserved _uhttp://oapen.org/content/about-rights |
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| 546 | _aEnglish | ||
| 650 | 7 |
_aMedical genetics _2bicssc |
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| 650 | 7 |
_aMedical genetics _2bicssc |
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| 653 | _agenetic studies | ||
| 700 | 1 |
_aMorris, Andrew _4edt |
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| 700 | 1 |
_aMorris, Andrew _4oth |
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| 700 | 1 |
_aZeggini, Eleftheria _4oth |
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| 793 | 0 | _aOAPEN Library. | |
| 856 | 4 | 0 |
_uhttps://library.oapen.org/handle/20.500.12657/48885 _70 _zFree-to-read: OAPEN Library: description of the publication |
| 999 |
_c36542 _d36542 |
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