CREST maps somatic structural variation in cancer genomes with base-pair resolution

Nat Methods. 2011 Jun 12;8(8):652-4. doi: 10.1038/nmeth.1628.

Abstract

We developed 'clipping reveals structure' (CREST), an algorithm that uses next-generation sequencing reads with partial alignments to a reference genome to directly map structural variations at the nucleotide level of resolution. Application of CREST to whole-genome sequencing data from five pediatric T-lineage acute lymphoblastic leukemias (T-ALLs) and a human melanoma cell line, COLO-829, identified 160 somatic structural variations. Experimental validation exceeded 80%, demonstrating that CREST had a high predictive accuracy.

Publication types

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

MeSH terms

  • Algorithms*
  • Animals
  • Base Pair Mismatch
  • DNA, Neoplasm / genetics*
  • Genome / genetics*
  • Humans
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods
  • Software*

Substances

  • DNA, Neoplasm