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A new tool for prioritization of sequence variants from whole exome sequencing data.

Brigitte GlanzmannHendri HerbstCraig J KinnearMarlo MöllerJunaid GamieldienSoraya Bardien
Published in: Source code for biology and medicine (2016)
TAPER™ implements a set of logical steps by which to prioritize candidate variants that could be associated with disease and this is aimed for implementation in biomedical laboratories with limited bioinformatics capacity. TAPER™ is free, can be setup on a Windows operating system (from Windows 7 and above) and does not require any programming knowledge. In summary, we have developed a freely available tool that simplifies variant prioritization from WES data in order to facilitate discovery of disease-causing genes.
Keyphrases
  • healthcare
  • electronic health record
  • copy number
  • big data
  • primary care
  • small molecule
  • genome wide
  • high throughput
  • data analysis
  • gene expression
  • dna methylation
  • transcription factor
  • genome wide identification