Published in

Elsevier, Annals of Oncology, 1(26), p. 64-70, 2015

DOI: 10.1093/annonc/mdu479

Links

Tools

Export citation

Search in Google Scholar

Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data

Journal article published in 2015 by Francesco Favero ORCID, Tejal Joshi, Am M. Marquard, Nj J. Birkbak ORCID, Marcin Krzystanek, Qiyuan Li, Z. Szallasi, Ac C. Eklund
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

Abstract

Exome or whole-genome deep sequencing of tumor DNA along with paired normal DNA can potentially provide a detailed picture of the somatic mutations that characterize the tumor. However, analysis of such sequence data can be complicated by the presence of normal cells in the tumor specimen, by intratumor heterogeneity, and by the sheer size of the raw data. In particular, determination of copy number variations from exome sequencing data alone has proven difficult; thus, single nucleotide polymorphism (SNP) arrays have often been used for this task. Recently, algorithms to estimate absolute, but not allele-specific, copy number profiles from tumor sequencing data have been described.