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

Bo Li, Jun Z. Li

Research output: Contribution to journalArticle

29 Citations (Scopus)

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)
Number of pages1
JournalGenome Biology
Volume15
Issue number9
DOIs
StatePublished - Jan 1 2014

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DNA Sequence Analysis
tumor
Single Nucleotide Polymorphism
sequence analysis
DNA
mutation
neoplasms
cancer
Neoplasms
Mutation
Neoplasm Genes
Aneuploidy
Point Mutation
aneuploidy
clone
point mutation
genome
Clone Cells
breast neoplasms
Genome

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A general framework for analyzing tumor subclonality using SNP array and DNA sequencing data. / Li, Bo; Li, Jun Z.

In: Genome Biology, Vol. 15, No. 9, 01.01.2014.

Research output: Contribution to journalArticle

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