Detecting copy number changes and structural rearrangements using DNA sequencing Book Section


Author: Seshan, V. E.
Editors: Datta, S.; Nettleton, D.
Article/Chapter Title: Detecting copy number changes and structural rearrangements using DNA sequencing
Title Series: Frontiers in Probability and the Statistical Sciences
Abstract: Chromosomal abnormalities in the form of deletions, duplications, inversions and translocations are common in cancer. These changes feed the oncogenic process by affecting genes that are involved in tumor growth. Next generation sequencing has aided our ability to study these changes at very high resolution. In this chapter we will describe the nature of these data and the information contained in them for the detection of the structural changes. We will present the circular binary segmentation algorithm for the segmentation of array based copy number data and adapt it to NGS data. We will also present a method for the detection of somatic structural rearrangement. We will illustrate these methods using data from breast cancer cell line (tumor) along with its blood (normal) counterpart generated by the cancer cell-line encyclopedia project.
Keywords: chromosome; gene; biology; algorithm; tumors; hybridization; circular binary segmentation; resolution; array cgh data; comparative genomic; cancer
Book Title: Statistical Analysis of Next Generation Sequencing Data
ISBN: 978-3-319-07212-8
Publisher: Springer  
Publication Place: Cham, Switzerland
Date Published: 2014-01-01
Start Page: 355
End Page: 378
Language: English
ACCESSION: WOS:000358056800019
PROVIDER: wos
DOI: 10.1007/978-3-319-07212-8_18
Notes: Book Chapter: 18 -- Source: Wos
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  1. Venkatraman Ennapadam Seshan
    382 Seshan