CONSERTING: integrating copy-number analysis with structural-variation detection

Nat Methods. 2015 Jun;12(6):527-30. doi: 10.1038/nmeth.3394. Epub 2015 May 4.

Abstract

We developed Copy Number Segmentation by Regression Tree in Next Generation Sequencing (CONSERTING), an algorithm for detecting somatic copy-number alteration (CNA) using whole-genome sequencing (WGS) data. CONSERTING performs iterative analysis of segmentation on the basis of changes in read depth and the detection of localized structural variations, with high accuracy and sensitivity. Analysis of 43 cancer genomes from both pediatric and adult patients revealed novel oncogenic CNAs, complex rearrangements and subclonal CNAs missed by alternative approaches.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Algorithms
  • Child
  • Computational Biology
  • DNA / genetics*
  • DNA Copy Number Variations / genetics*
  • Gene Expression Regulation, Neoplastic
  • Genetic Markers
  • Genome
  • Genomics / methods*
  • Humans
  • Neoplasms / genetics*
  • Software*

Substances

  • Genetic Markers
  • DNA