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000733627 020__ $$a9781493928248$$qelectronic book
000733627 020__ $$a1493928244$$qelectronic book
000733627 020__ $$z9781493928231
000733627 0247_ $$a10.1007/978-1-4939-2824-8$$2doi
000733627 035__ $$aSP(OCoLC)ocn918841136
000733627 035__ $$aSP(OCoLC)918841136
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000733627 049__ $$aISEA
000733627 050_4 $$aQH431
000733627 08204 $$a599.9/4$$223
000733627 24500 $$aAssessing rare variation in complex traits$$h[electronic resource] :$$bdesign and analysis of genetic studies /$$cEleftheria Zeggini, Andrew Morris, editors.
000733627 264_1 $$aNew York :$$bSpringer,$$c2015.
000733627 300__ $$a1 online resource (xi, 261 pages) :$$billustrations
000733627 336__ $$atext$$btxt$$2rdacontent
000733627 337__ $$acomputer$$bc$$2rdamedia
000733627 338__ $$aonline resource$$bcr$$2rdacarrier
000733627 5050_ $$aCalling 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.
000733627 506__ $$aAccess limited to authorized users.
000733627 520__ $$aThis 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.
000733627 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed August 18, 2015).
000733627 650_0 $$aHuman genetics$$xVariation.
000733627 650_0 $$aGenomics.
000733627 7001_ $$aZeggini, Eleftheria,$$eeditor.
000733627 7001_ $$aMorris, Andrew Paul,$$eeditor.
000733627 77608 $$iPrint version:$$z9781493928231
000733627 852__ $$bebk
000733627 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-1-4939-2824-8$$zOnline Access$$91397441.1
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000733627 980__ $$aEBOOK
000733627 980__ $$aBIB
000733627 982__ $$aEbook
000733627 983__ $$aOnline
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