The authors contributed equally to this work.
Detecting multiple causal rare variants in exome sequence data
Article first published online: 29 NOV 2011
© 2011 Wiley Periodicals, Inc.
Supplement: Genetic Analysis Workshop 17: Approaches to Analysis of Next-Generation Sequencing Data
Volume 35, Issue Supplement 1, pages S18–S21, 2011
How to Cite
Ye, K. Q. and Engelman, C. D. (2011), Detecting multiple causal rare variants in exome sequence data. Genet. Epidemiol., 35: S18–S21. doi: 10.1002/gepi.20644
- Issue published online: 29 NOV 2011
- Article first published online: 29 NOV 2011
Recent advances in sequencing technology have presented both opportunities and challenges, with limited statistical power to detect a single causal rare variant with practical sample sizes. To overcome this, the contributors to Group 1 of Genetic Analysis Workshop 17 sought to develop methods to detect the combined signal of multiple causal rare variants in a biologically meaningful way. The contributors used genes, genome location proximity, or genetic pathways as the basic unit in combining the information from multiple variants. Weaknesses of the exome sequence data and the relative strengths and weaknesses of the five approaches are discussed. Genet. Epidemiol. 35:S18–S21, 2011. © 2011 Wiley Periodicals, Inc.