A general framework for analyzing tumor subclonality using SNP array and DNA sequencing data

Bo Li, Jun Z. Li

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

Intra-tumor heterogeneity reflects cancer genome evolution and provides key information for diagnosis and treatment. When bulk tumor tissues are profiled for somatic copy number alterations (sCNA) and point mutations, it may be difficult to estimate their cellular fractions when a mutation falls within a sCNA. We present the Clonal Heterogeneity Analysis Tool, which estimates cellular fractions for both sCNAs and mutations, and uses their distributions to inform macroscopic clonal architecture. In a set of approximately 700 breast tumors, more than half appear to contain multiple recognizable aneuploid tumor clones, and many show subtype-specific differences in clonality for known cancer genes.

Original languageEnglish (US)
Article number473
Number of pages1
JournalGenome biology
Volume15
Issue number9
DOIs
StatePublished - 2014

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology

Fingerprint Dive into the research topics of 'A general framework for analyzing tumor subclonality using SNP array and DNA sequencing data'. Together they form a unique fingerprint.

  • Cite this