Assessing Rare Variation in Complex Traits (Record no. 60811)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02336nam a2200253Ii 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 221202s xx 000 0 und d |
| 245 #0 - TITLE STATEMENT | |
| Title | Assessing Rare Variation in Complex Traits |
| 246 ## - VARYING FORM OF TITLE | |
| Title proper/short title | Design and Analysis of Genetic Studies |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | New York |
| Name of producer, publisher, distributor, manufacturer | Springer Nature |
| Date of production, publication, distribution, manufacture, or copyright notice | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (263 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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. |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Genetic Studies |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | 0000-0002-6315-7553 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | 0000-0003-4238-659X |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | 600 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | 600 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeggini, Eleftheria |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://library.oapen.org/handle/20.500.12657/48885">https://library.oapen.org/handle/20.500.12657/48885</a> |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | E-Book |
| Withdrawn status | Damaged status | Not for loan | Home library | Current library | Date acquired | Total Checkouts | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|
| Directory of Open Access Books | Directory of Open Access Books | 11/28/2022 | 11/28/2022 | 11/28/2022 | E-Book |