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Workflows used for Variant Discovery and Analysis

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Germline analysis pipeline

Workflows used for germline short variant discovery on WGS data following GATK best practices.

Requirements/expectations

  • Directory of Human whole-genome paired-end sequencing data in Fastq format
    • Metadata in xml format in parent directory
    • Input Fastqs are expected to share the same prefix pattern ex. ("123_1", "123_2")

Outputs

  • uBam
  • GVCF(in progress)
  • VCF?(in progress)

ToDo

  • Hail tertiary analysis

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Workflows used for Variant Discovery and Analysis

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