AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

Bioinformatics. 2007 Jul 1;23(13):1689-91. doi: 10.1093/bioinformatics/btm152. Epub 2007 May 7.

Abstract

The undertaking of large-scale DNA sequencing screens for somatic variants in human cancers requires accurate and rapid processing of traces for variants. Due to their often aneuploid nature and admixed normal tissue, heterozygous variants found in primary cancers are often subtle and difficult to detect. To address these issues, we have developed a mutation detection algorithm, AutoCSA, specifically optimized for the high throughput screening of cancer samples.

Availability: http://www.sanger.ac.uk/genetics/CGP/Software/AutoCSA.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Base Sequence
  • Chromosome Mapping / methods*
  • DNA Mutational Analysis / methods*
  • DNA, Neoplasm / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods*
  • Genetic Variation / genetics
  • Humans
  • Molecular Sequence Data
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Software

Substances

  • DNA, Neoplasm