Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants
Joint Authors
Wen, Ruofeng
Zhang, Yuanhao
Wang, Tao
Ye, Kenny
Lin, Chang-Yun
Source
Journal of Probability and Statistics
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-19, 19 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-09-05
Country of Publication
Egypt
No. of Pages
19
Main Subjects
Abstract EN
Next generation sequencing (NGS) is a revolutionary technology for biomedical research.
One highly cost-efficient application of NGS is to detect disease association based on pooled DNA samples.
However, several key issues need to be addressed for pooled NGS.
One of them is the high sequencing error rate and its high variability across genomic positions and experiment runs, which, if not well considered in the experimental design and analysis, could lead to either inflated false positive rates or loss in statistical power.
Another important issue is how to test association of a group of rare variants.
To address the first issue, we proposed a new blocked pooling design in which multiple pools of DNA samples from cases and controls are sequenced together on same NGS functional units.
To address the second issue, we proposed a testing procedure that does not require individual genotypes but by taking advantage of multiple DNA pools.
Through a simulation study, we demonstrated that our approach provides a good control of the type I error rate, and yields satisfactory power compared to the test-based on individual genotypes.
Our results also provide guidelines for designing an efficient pooled.
American Psychological Association (APA)
Wang, Tao& Lin, Chang-Yun& Zhang, Yuanhao& Wen, Ruofeng& Ye, Kenny. 2012. Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants. Journal of Probability and Statistics،Vol. 2012, no. 2012, pp.1-19.
https://search.emarefa.net/detail/BIM-478566
Modern Language Association (MLA)
Wang, Tao…[et al.]. Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants. Journal of Probability and Statistics No. 2012 (2012), pp.1-19.
https://search.emarefa.net/detail/BIM-478566
American Medical Association (AMA)
Wang, Tao& Lin, Chang-Yun& Zhang, Yuanhao& Wen, Ruofeng& Ye, Kenny. Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants. Journal of Probability and Statistics. 2012. Vol. 2012, no. 2012, pp.1-19.
https://search.emarefa.net/detail/BIM-478566
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-478566