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008			150813s2015 xxu| s |||| 0|eng d
020			_a9781493928248
024	7		_a10.1007/978-1-4939-2824-8 _2doi
040			_dES-MaUEC
050		4	_aQH431 _b.A874 2015
245	1	0	_aAssessing Rare Variation in Complex Traits : _bDesign and Analysis of Genetic Studies _cedited by Eleftheria Zeggini, Andrew Morris.
250			_a1st ed. 2015.
260			_aNew York _bSpringer International Publishing _c2015
300			_a1 recurso en línea (XI, 261 p.) _b36 ilustraciones, 26 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
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 StratificationÂ{uF9A0}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		7	_2embne _9140562 _aGenética humana
700	1		_aZeggini, Eleftheria _eeditor literario _993516 _0Local
700	1		_aMorris, Andrew _eeditor literario _993517 _0Local
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-1-4939-2824-8 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12898016 _b10-10-17 _c18-01-16
942			_2lcc _cLE
945			_aQH431 .A874 2015 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11567636 _z06-04-17
988			_aEBSPRINGER
998			_am _a_alco _a_vill _b - - _cm _dz _e- _feng _gxxu _h0