Title
An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.
Abstract
The limited performance of the current CNV detection tools for WES data in cancer indicates the need for developing more efficient and precise CNV detection methods. Due to the complexity of tumors and high level of noise and biases in WES data, employing advanced novel segmentation, normalization and de-noising techniques that are designed specifically for cancer data is necessary. Also, CNV detection development suffers from the lack of a gold standard for performance evaluation. Finally, developing tools with user-friendly user interfaces and visualization features can enhance CNV studies for a broader range of users.
Year
DOI
Venue
2017
10.1186/s12859-017-1705-x
BMC Bioinformatics
Keywords
Field
DocType
Cancer,Copy number variation,Somatic aberrations,Whole-exome sequencing
False discovery rate,Biology,Copy-number variation,Genomics,Whole genome sequencing,Bioinformatics,Genetics,Exome sequencing,Cancer,DNA microarray
Journal
Volume
Issue
ISSN
18
1
1471-2105
Citations 
PageRank 
References 
4
0.47
10
Authors
5
Name
Order
Citations
PageRank
Fatima Zare140.81
Michelle Dow240.81
Nicholas Monteleone340.47
Abdelrahman Hosny440.81
Sheida Nabavi5188.68