A computational approach to detect CNVs using high-throughput sequencing

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

Research output: Chapter in Book/Report/Conference proceedingConference 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 languageEnglish
Title of host publicationProceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009
Pages266-271
Number of pages6
DOIs
Publication statusPublished - 2009 Nov 18
Event2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009 - Taichung, Taiwan, Province of China
Duration: 2009 Jun 222009 Jun 24

Publication series

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

Other

Other2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009
CountryTaiwan, Province of China
CityTaichung
Period09/6/2209/6/24

All Science Journal Classification (ASJC) codes

  • Information Systems
  • Biomedical Engineering
  • Health Informatics

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  • 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