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Identification of single nucleotide variants using position-specific error estimation in deep sequencing data.

Dimitrios KleftogiannisMarco PuntaAnuradha JayaramShahneen SandhuStephen Q WongDelila Gasi TandefeltVincenza ConteducaDaniel WetterskogGerhardt AttardStefano Lise
Published in: BMC medical genomics (2019)
AmpliSolve is a new tool for in-silico estimation of background noise and for detection of low frequency SNVs in targeted deep sequencing data. Although AmpliSolve has been specifically designed for and tested on amplicon-based libraries sequenced with the Ion Torrent platform it can, in principle, be applied to other sequencing platforms as well. AmpliSolve is freely available at https://github.com/dkleftogi/AmpliSolve .
Keyphrases
  • single cell
  • electronic health record
  • big data
  • high throughput
  • air pollution
  • molecular docking
  • gene expression
  • drug delivery