Rseg-an R package to optimize segmentation of SNP array data

Research output: Contribution to journalJournal articleResearchpeer-review

Summary: The use of high-density SNP arrays for investigating copy number alterations in clinical tumor samples, with intra tumor heterogeneity and varying degrees of normal cell contamination, imposes several problems for commonly used segmentation algorithms. This calls for flexibility when setting thresholds for calling gains and losses. In addition, sample normalization can induce artifacts in the copy-number ratios for the non-changed genomic elements in the tumor samples. Results: We present an open source R package, Rseg, which allows the user to define sample-specific thresholds to call gains and losses. It also allows the user to correct for normalization artifacts.

Original languageEnglish
Article numberbtq668
JournalBioinformatics
Volume27
Issue number3
Pages (from-to)419-420
Number of pages2
ISSN1367-4803
DOIs
Publication statusPublished - 1 Feb 2011
Externally publishedYes

ID: 203899400