000 03648nam a22005055i 4500
001 978-1-4939-2824-8
003 DE-He213
005 20160405112819.0
007 cr nn 008mamaa
008 150813s2015 xxu| s |||| 0|eng d
020 _a9781493928248
_9978-1-4939-2824-8
024 7 _a10.1007/978-1-4939-2824-8
_2doi
050 4 _aRB155-155.8
050 4 _aQH431
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aAssessing Rare Variation in Complex Traits
_h[electronic resource] :
_bDesign and Analysis of Genetic Studies /
_cedited by Eleftheria Zeggini, Andrew Morris.
250 _a1st ed. 2015.
264 1 _aNew York, NY :
_bSpringer New York :
_bImprint: Springer,
_c2015.
300 _aXI, 261 p. 36 illus., 26 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _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.
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.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aMolecular biology.
650 0 _aStatistics.
650 1 4 _aBiomedicine.
650 2 4 _aHuman Genetics.
650 2 4 _aMolecular Medicine.
650 2 4 _aStatistics for Life Sciences, Medicine, Health Sciences.
700 1 _aZeggini, Eleftheria.
_eeditor.
700 1 _aMorris, Andrew.
_eeditor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9781493928231
856 4 0 _uhttp://dx.doi.org/10.1007/978-1-4939-2824-8
912 _aZDB-2-SBL
999 _c3840
_d3840