Assessing Rare Variation in Complex Traits (Record no. 36542)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 03032namaa2200457uu 4500 |
| 001 - CONTROL NUMBER | |
| control field | oapen48885 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | oapen |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240507100216.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr|mn|---annan |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 210602s2015 xx |||||o ||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781493928248 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781493928231 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781493928248 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781493945184 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-1-4939-2824-8 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | oapen |
| Transcribing agency | oapen |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MFN |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MFN |
| Source | bicssc |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Zeggini, Eleftheria |
| Relationship | edt |
| 245 10 - TITLE STATEMENT | |
| Title | Assessing Rare Variation in Complex Traits |
| Remainder of title | Design and Analysis of Genetic Studies |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | New York |
| Name of publisher, distributor, etc. | Springer Nature |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (263 p.) |
| 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 |
| 506 0# - RESTRICTIONS ON ACCESS NOTE | |
| Terms governing access | Free-to-read |
| Standardized terminology for access restriction | Unrestricted online access |
| Source of term | star |
| 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. |
| 540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE | |
| Terms governing use and reproduction | All rights reserved |
| Uniform Resource Identifier | <a href="http://oapen.org/content/about-rights">http://oapen.org/content/about-rights</a> |
| 546 ## - LANGUAGE NOTE | |
| Language note | English |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medical genetics |
| Source of heading or term | bicssc |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medical genetics |
| Source of heading or term | bicssc |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | genetic studies |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Andrew |
| Relationship | edt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Andrew |
| Relationship | oth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeggini, Eleftheria |
| Relationship | oth |
| 793 0# - | |
| -- | OAPEN Library. |
| 856 40 - 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> |
| Access status | 0 |
| Public note | Free-to-read: OAPEN Library: description of the publication |
No items available.