Title
Detection of novel tandem duplication with next-generation sequencing
Abstract
Detection of structural variations is an important problem. With the next generation sequencing technology, it is relatively easier to obtain a set of paired-end short reads from an individual (the donor). By aligning these reads onto a reference genome (the reference), we are able to detect some of the structural variations that exist between the donor and the reference. A number of tools were developed in this direction. However, these tools are not able to detect all types of variations. In particular, they do not perform well for the detection of tandem duplications which are found to be associated with some diseases. In this paper, we try to solve this problem and developed algorithm to identify novel tandem duplications that exist in donor and vice versa. Experimental results on both simulated and real datasets showed that our solutions are effective.
Year
DOI
Venue
2011
10.1145/2147805.2147861
BCB
Keywords
Field
DocType
next-generation sequencing,developed algorithm,important problem,novel tandem duplication,tandem duplication,structural variation,real datasets,reference genome,next generation,next generation sequencing
Tandem,Biology,DNA sequencing,Computational biology,Tandem exon duplication,Genetics,Reference genome
Conference
Citations 
PageRank 
References 
1
0.51
4
Authors
5
Name
Order
Citations
PageRank
Xuan Liu110.51
Shing-Wan Choi210.51
Thomas K. F. Wong3899.80
Tak-Wah Lam41860164.96
Siu-Ming Yiu54812.43