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RUBICON: a framework for designing efficient deep learning-based genomic basecallers.

Gagandeep SinghMohammed AlserKristof DenolfCan FirtinaAlireza KhodamoradiMeryem Banu CavlakHenk CorporaalOnur Mutlu
Published in: Genome biology (2024)
Nanopore sequencing generates noisy electrical signals that need to be converted into a standard string of DNA nucleotide bases using a computational step called basecalling. The performance of basecalling has critical implications for all later steps in genome analysis. Therefore, there is a need to reduce the computation and memory cost of basecalling while maintaining accuracy. We present RUBICON, a framework to develop efficient hardware-optimized basecallers. We demonstrate the effectiveness of RUBICON by developing RUBICALL, the first hardware-optimized mixed-precision basecaller that performs efficient basecalling, outperforming the state-of-the-art basecallers. We believe RUBICON offers a promising path to develop future hardware-optimized basecallers.
Keyphrases
  • deep learning
  • single molecule
  • randomized controlled trial
  • circulating tumor
  • working memory
  • cell free
  • machine learning
  • artificial intelligence
  • convolutional neural network
  • copy number
  • circulating tumor cells