CNValidator: validating somatic copy-number inference

Bioinformatics. 2019 Aug 1;35(15):2660-2662. doi: 10.1093/bioinformatics/bty1022.

Abstract

Motivation: CNValidator assesses the quality of somatic copy-number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy-number calling algorithm, which makes calls independently for each sample. This test is useful in assessing the accuracy of copy-number calls, as well as choosing among alternative copy-number algorithms or tuning parameter values.

Results: On a dataset of somatic samples from individuals with Barrett's Esophagus, CNValidator provided feedback on the correctness of sample ploidy calls and also detected data quality issues.

Availability and implementation: CNValidator is available on GitHub at https://github.com/kuhnerlab/CNValidator.

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms
  • DNA Copy Number Variations*
  • Haplotypes
  • Humans
  • Ploidies
  • Software*