Please use this identifier to cite or link to this item: https://doi.org/10.1186/1471-2105-10-80
Title: CNV-seq, a new method to detect copy number variation using high-throughput sequencing
Authors: Xie, C.
Tammi, M.T. 
Issue Date: 6-Mar-2009
Citation: Xie, C., Tammi, M.T. (2009-03-06). CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics 10 : -. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2105-10-80
Abstract: Background: DNA copy number variation (CNV) has been recognized as an important source of genetic variation. Array comparative genomic hybridization (aCGH) is commonly used for CNV detection, but the microarray platform has a number of inherent limitations. Results: Here, we describe a method to detect copy number variation using shotgun sequencing, CNV-seq. The method is based on a robust statistical model that describes the complete analysis procedure and allows the computation of essential confidence values for detection of CNV. Our results show that the number of reads, not the length of the reads is the key factor determining the resolution of detection. This favors the next-generation sequencing methods that rapidly produce large amount of short reads. Conclusion: Simulation of various sequencing methods with coverage between 0.1× to 8× show overall specificity between 91.7 - 99.9%, and sensitivity between 72.2 - 96.5%. We also show the results for assessment of CNV between two individual human genomes. © 2009 Xie and Tammi; licensee BioMed Central Ltd.
Source Title: BMC Bioinformatics
URI: http://scholarbank.nus.edu.sg/handle/10635/100291
ISSN: 14712105
DOI: 10.1186/1471-2105-10-80
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

301
checked on Oct 12, 2018

WEB OF SCIENCETM
Citations

271
checked on Oct 3, 2018

Page view(s)

16
checked on Jul 13, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.