ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data
Joint Authors
Won, Jung-Im
Yoon, Jeehee
Kong, Jinhwa
Shin, Jaemoon
Lee, Keonbae
Lee, Unjoo
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-06-18
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Copy number variations (CNVs) are structural variants associated with human diseases.
Recent studies verified that disease-related genes are based on the extraction of rare de novo and transmitted CNVs from exome sequencing data.
The need for more efficient and accurate methods has increased, which still remains a challenging problem due to coverage biases, as well as the sparse, small-sized, and noncontinuous nature of exome sequencing.
In this study, we developed a new CNV detection method, ExCNVSS, based on read coverage depth evaluation and scale-space filtering to resolve these problems.
We also developed the method ExCNVSS_noRatio, which is a version of ExCNVSS, for applying to cases with an input of test data only without the need to consider the availability of a matched control.
To evaluate the performance of our method, we tested it with 11 different simulated data sets and 10 real HapMap samples’ data.
The results demonstrated that ExCNVSS outperformed three other state-of-the-art methods and that our method corrected for coverage biases and detected all-sized CNVs even without matched control data.
American Psychological Association (APA)
Kong, Jinhwa& Shin, Jaemoon& Won, Jung-Im& Lee, Keonbae& Lee, Unjoo& Yoon, Jeehee. 2017. ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data. BioMed Research International،Vol. 2017, no. 2017, pp.1-11.
https://search.emarefa.net/detail/BIM-1139662
Modern Language Association (MLA)
Kong, Jinhwa…[et al.]. ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data. BioMed Research International No. 2017 (2017), pp.1-11.
https://search.emarefa.net/detail/BIM-1139662
American Medical Association (AMA)
Kong, Jinhwa& Shin, Jaemoon& Won, Jung-Im& Lee, Keonbae& Lee, Unjoo& Yoon, Jeehee. ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-11.
https://search.emarefa.net/detail/BIM-1139662
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1139662