A Computational Approach to Detect CNVs Using High-throughput Sequencing

B
BIBE
2009
2009 Ninth IEEE International Conference on Bioinformatics and Bioengineering
Abstract - A Computational Approach to Detect CNVs Using High-throughput Sequencing

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	Similar Articles Articles by Myungjin Moon Articles by Jaegyoon Ahn Articles by Youngmi Yoon Articles by Chihyun Park Articles by Sanghyun Park Articles by Jeehee Yoon

2009 Ninth IEEE International Conference on Bioinformatics and Bioengineering

Taichung, Taiwan

June 22-June 24

ISBN: 978-0-7695-3656-9

	ASCII Text	x
	Myungjin Moon, Jaegyoon Ahn, Youngmi Yoon, Chihyun Park, Sanghyun Park, Jeehee Yoon, "A Computational Approach to Detect CNVs Using High-throughput Sequencing," Bioinformatic and Bioengineering, IEEE International Symposium on, pp. 266-271, 2009 Ninth IEEE International Conference on Bioinformatics and Bioengineering, 2009.

	BibTex	x
	@article{ 10.1109/BIBE.2009.13, author = {Myungjin Moon and Jaegyoon Ahn and Youngmi Yoon and Chihyun Park and Sanghyun Park and Jeehee Yoon}, title = {A Computational Approach to Detect CNVs Using High-throughput Sequencing}, journal ={Bioinformatic and Bioengineering, IEEE International Symposium on}, volume = {0}, year = {2009}, isbn = {978-0-7695-3656-9}, pages = {266-271}, doi = {http://doi.ieeecomputersociety.org/10.1109/BIBE.2009.13}, publisher = {IEEE Computer Society}, address = {Los Alamitos, CA, USA}, }

	RefWorks Procite/RefMan/Endnote	x
	TY - CONF JO - Bioinformatic and Bioengineering, IEEE International Symposium on TI - A Computational Approach to Detect CNVs Using High-throughput Sequencing SN - 978-0-7695-3656-9 SP266 EP271 A1 - Myungjin Moon, A1 - Jaegyoon Ahn, A1 - Youngmi Yoon, A1 - Chihyun Park, A1 - Sanghyun Park, A1 - Jeehee Yoon, PY - 2009 KW - Copy Number Variations KW - CNVs KW - High-throughput sequencing KW - Genomic variants generator VL - 0 JA - Bioinformatic and Bioengineering, IEEE International Symposium on ER -

DOI Bookmark: http://doi.ieeecomputersociety.org/10.1109/BIBE.2009.13

Copy-Number Variations (CNVs) can be defined as gains or losses that are greater than 1kbs of genomic DNA among phenotypically normal individuals. CNVs detected by microarray based approach are limited to medium or large sized ones because of its low resolution. Here we propose a novel approach to detect CNVs by aligning the short reads obtained by high-throughput sequencer to the previously assembled human genome sequence, and analyzing the distribution of the aligned reads. Application of our algorithm demonstrates the feasibility of detecting CNVs of arbitrary length, which include short ones that microarray based algorithms cannot detect. Also, false positive and false negative rates of the results were relatively low compared to those of microarray based algorithms.

Index Terms:

Copy Number Variations, CNVs, High-throughput sequencing, Genomic variants generator

Citation:

Myungjin Moon, Jaegyoon Ahn, Youngmi Yoon, Chihyun Park, Sanghyun Park, Jeehee Yoon, "A Computational Approach to Detect CNVs Using High-throughput Sequencing," bibe, pp.266-271, 2009 Ninth IEEE International Conference on Bioinformatics and Bioengineering, 2009

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