A computational approach to detect CNVs using high-throughput sequencing

Moon Myungjin; Ahn Jaegyoon; Park Chihyun; Park Sanghyun; Yoon Youngmi; Yoon Jeehee

doi:10.1109/BIBE.2009.13

A computational approach to detect CNVs using high-throughput sequencing

Moon Myungjin, Ahn Jaegyoon, Park Chihyun, Park Sanghyun, Yoon Youngmi, Yoon Jeehee

College of Computing

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

1 Citation (Scopus)

Abstract

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.

Original language	English
Title of host publication	Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009
Pages	266-271
Number of pages	6
DOIs	https://doi.org/10.1109/BIBE.2009.13
Publication status	Published - 2009
Event	2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009 - Taichung, Taiwan, Province of China Duration: 2009 Jun 22 → 2009 Jun 24

Publication series

Name	Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009

Other

Other	2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009
Country/Territory	Taiwan, Province of China
City	Taichung
Period	09/6/22 → 09/6/24

All Science Journal Classification (ASJC) codes

Information Systems
Biomedical Engineering
Health Informatics

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10.1109/BIBE.2009.13

Cite this

Myungjin, M., Jaegyoon, A., Chihyun, P., Sanghyun, P., Youngmi, Y., & Jeehee, Y. (2009). A computational approach to detect CNVs using high-throughput sequencing. In Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009 (pp. 266-271). [5211269] (Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009). https://doi.org/10.1109/BIBE.2009.13

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abstract = "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.",

author = "Moon Myungjin and Ahn Jaegyoon and Park Chihyun and Park Sanghyun and Yoon Youngmi and Yoon Jeehee",

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Myungjin, M, Jaegyoon, A, Chihyun, P, Sanghyun, P, Youngmi, Y & Jeehee, Y 2009, A computational approach to detect CNVs using high-throughput sequencing. in Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009., 5211269, Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009, pp. 266-271, 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009, Taichung, Taiwan, Province of China, 09/6/22. https://doi.org/10.1109/BIBE.2009.13

A computational approach to detect CNVs using high-throughput sequencing. / Myungjin, Moon; Jaegyoon, Ahn; Chihyun, Park et al.

Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009. 2009. p. 266-271 5211269 (Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

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AB - 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.

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Myungjin M, Jaegyoon A, Chihyun P, Sanghyun P, Youngmi Y, Jeehee Y. A computational approach to detect CNVs using high-throughput sequencing. In Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009. 2009. p. 266-271. 5211269. (Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009). doi: 10.1109/BIBE.2009.13

A computational approach to detect CNVs using high-throughput sequencing

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