Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer

Nat Protoc. 2018 Nov;13(11):2580-2600. doi: 10.1038/s41596-018-0052-3.

Abstract

Next-generation sequencing (NGS) is routinely applied in life sciences and clinical practice, but interpretation of the massive quantities of genomic data produced has become a critical challenge. The genome-wide mutation analyses enabled by NGS have had a revolutionary impact in revealing the predisposing and driving DNA alterations behind a multitude of disorders. The workflow to identify causative mutations from NGS data, for example in cancer and rare diseases, commonly involves phases such as quality filtering, case-control comparison, genome annotation, and visual validation, which require multiple processing steps and usage of various tools and scripts. To this end, we have introduced an interactive and user-friendly multi-platform-compatible software, BasePlayer, which allows scientists, regardless of bioinformatics training, to carry out variant analysis in disease genetics settings. A genome-wide scan of regulatory regions for mutation clusters can be carried out with a desktop computer in ~10 min with a dataset of 3 million somatic variants in 200 whole-genome-sequenced (WGS) cancers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Computational Biology
  • DNA Mutational Analysis / methods*
  • DNA, Intergenic
  • DNA, Neoplasm / genetics*
  • Exome
  • Genetics, Medical / methods
  • Genome, Human*
  • High-Throughput Nucleotide Sequencing / statistics & numerical data
  • Humans
  • Mutation*
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Software*
  • Whole Genome Sequencing

Substances

  • DNA, Intergenic
  • DNA, Neoplasm