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SEAMLESS Variant calling and classification FOR rare disease

  • Published on: May 19 2023

Overview:

Molgenis Variant Interpretation Pipeline:

  • From VCF, gVCF, BAM or FASTQ
  • short-read and long-read support
  • Best practice calling/annotation
  • ML based prioritization (CAPICE)
  • Customizable decision tree
  • Interactive visual report
  • Best practice alignment and variant calling
  • Using diagnostics classification protocols

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