MARC details
| 000 -LEADER |
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03648nam a22005055i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-1-4939-2824-8 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20160405112819.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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150813s2015 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9781493928248 |
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978-1-4939-2824-8 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-1-4939-2824-8 |
| Source of number or code |
doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
QH431 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MFN |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MED107000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
611.01816 |
| Edition number |
23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
599.935 |
| Edition number |
23 |
| 245 10 - TITLE STATEMENT |
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| Title |
Assessing Rare Variation in Complex Traits |
| Medium |
[electronic resource] : |
| Remainder of title |
Design and Analysis of Genetic Studies / |
| Statement of responsibility, etc |
edited by Eleftheria Zeggini, Andrew Morris. |
| 250 ## - EDITION STATEMENT |
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| Edition statement |
1st ed. 2015. |
| 264 #1 - |
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New York, NY : |
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Springer New York : |
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Imprint: Springer, |
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2015. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
XI, 261 p. 36 illus., 26 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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text |
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txt |
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rdacontent |
| 337 ## - |
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computer |
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c |
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rdamedia |
| 338 ## - |
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online resource |
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cr |
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rdacarrier |
| 347 ## - |
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text file |
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PDF |
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rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
Calling Rare Variants from Genotype Data -- Calling Variants from Sequence Data -- Rare Variant Quality Control -- Rare Structural Variants -- Functional Annotation of Rare Genetic Variants -- The 1000 Genomes Project -- The UK10K Project -- Population Isolates -- Natural Selection at Rare Variants -- Collapsing Approaches for the Association Analysis of Rare Variants -- Rare Variant Association Analysis: Beyond Collapsing Approaches -- Significance Thresholds for Rare Variant Signals -- Power of Rare Variant Aggregate Tests -- Replicating Sequence-based Association Studies of Rare Variants -- Meta-analysis of Rare Variants -- Population Stratification of Rare Variants -- Use of Appropriate Controls in Rare Variant Studies -- Trans-ethnic Fine-mapping of Rare Causal Variants. |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc |
This unique volume is the first to cover a wide range of design and analysis issues in genetic studies of rare variants, with contributions from experts in the field, through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. The book presents state-of-the-art methodology for rare variant detection and calling, imputation, and analysis in samples of unrelated individuals and families. It also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and rare variants studies in a meta-analysis framework. 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 analyze 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 as this book illustrates, powerful methods to analyze the aggregation of low-frequency and rare variants are now starting to emerge. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Molecular biology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Statistics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Molecular Medicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Statistics for Life Sciences, Medicine, Health Sciences. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Zeggini, Eleftheria. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Morris, Andrew. |
| Relator term |
editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
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| Display text |
Printed edition: |
| International Standard Book Number |
9781493928231 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Uniform Resource Identifier |
<a href="http://dx.doi.org/10.1007/978-1-4939-2824-8">http://dx.doi.org/10.1007/978-1-4939-2824-8</a> |
| 912 ## - |
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ZDB-2-SBL |
