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Variational inference for rare variant detection in deep, heterogeneous next-generation sequencing data.

Fan ZhangPatrick J Flaherty
Published in: BMC bioinformatics (2017)
We developed a variational EM algorithm for a hierarchical Bayesian model to identify rare variants in heterogeneous next-generation sequencing data. Our algorithm is able to identify variants in a broad range of read depths and non-reference allele frequencies with high sensitivity and specificity.
Keyphrases
  • copy number
  • machine learning
  • electronic health record
  • deep learning
  • big data
  • genome wide
  • circulating tumor
  • dna methylation
  • single molecule
  • neural network
  • artificial intelligence
  • quantum dots