Somatic point mutation calling in low cellularity tumors

PLoS One. 2013 Nov 8;8(11):e74380. doi: 10.1371/journal.pone.0074380. eCollection 2013.

Abstract

Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping. Tumor cellularity or purity, sub-clonality and copy number changes also confound the identification of true somatic events against a background of germline variants. We have developed a heuristic strategy and software (http://www.qcmg.org/bioinformatics/qsnp/) for somatic mutation calling in samples with low tumor content and we show the superior sensitivity and precision of our approach using a previously sequenced cell line, a series of tumor/normal admixtures, and 3,253 putative somatic SNVs verified on an orthogonal platform.

MeSH terms

  • Computational Biology*
  • DNA Copy Number Variations / genetics
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Mutation
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Point Mutation / genetics*
  • Polymerase Chain Reaction / methods
  • Software*