國立高雄大學圖資館 |

語系: 繁體中文

說明(常見問題)

圖資館首頁

登入

回首頁

切換: 標籤 | MARC模式 | ISBD

Assessing rare variation in complex ...

Morris, Andrew.

Assessing rare variation in complex traitsdesign and analysis of genetic studies /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Assessing rare variation in complex traitsedited by Eleftheria Zeggini, Andrew Morris.
其他題名:	design and analysis of genetic studies /
其他作者:	Zeggini, Eleftheria.
出版者:	New York, NY :Springer New York :2015.
面頁冊數:	xi, 261 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer eBooks
標題:	Human geneticsVariation.
電子資源:	http://dx.doi.org/10.1007/978-1-4939-2824-8
ISBN:	9781493928248$q(electronic bk.)

Assessing rare variation in complex traitsdesign and analysis of genetic studies /
Assessing rare variation in complex traitsdesign and analysis of genetic studies /[electronic resource] :edited by Eleftheria Zeggini, Andrew Morris. - New York, NY :Springer New York :2015. - xi, 261 p. :ill. (some col.), digital ;24 cm.

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.

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.

ISBN: 9781493928248$q(electronic bk.)

Standard No.: 10.1007/978-1-4939-2824-8doiSubjects--Topical Terms:

501825
Human genetics
--Variation.

LC Class. No.: QH431

Dewey Class. No.: 599.94

Assessing rare variation in complex traitsdesign and analysis of genetic studies /
LDR:02973nmm a2200313 a 4500 001 474893
003 DE-He213
005 20160301111224.0
006 m d
007 cr nn 008maaau
008 160420s2015 nyu s 0 eng d
020 $a 9781493928248$q(electronic bk.)
020 $a 9781493928231$q(paper)
024 7 $a 10.1007/978-1-4939-2824-8 $2 doi
035 $a 978-1-4939-2824-8
040 $a GP $c GP
041 0 $a eng
050 4 $a QH431
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
082 0 4 $a 599.94 $2 23
090 $a QH431 $b .A846 2015
245 0 0 $a Assessing rare variation in complex traits $h [electronic resource] : $b design and analysis of genetic studies / $c edited by Eleftheria Zeggini, Andrew Morris.
260 $a New York, NY : $b Springer New York : $b Imprint: Springer, $c 2015.
300 $a xi, 261 p. : $b ill. (some col.), digital ; $c 24 cm.
505 0 $a 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 $a 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 $a Human genetics $x Variation. $3 501825
650 0 $a Genomics. $3 209057
650 1 4 $a Biomedicine. $3 273648
650 2 4 $a Human Genetics. $3 273658
650 2 4 $a Molecular Medicine. $3 273932
650 2 4 $a Statistics for Life Sciences, Medicine, Health Sciences. $3 274067
700 1 $a Zeggini, Eleftheria. $3 501823
700 1 $a Morris, Andrew. $3 501824
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-1-4939-2824-8
950 $a Biomedical and Life Sciences (Springer-11642)