github.com/talkowski-lab/lr-annotation/PAV

[system]

Long-Read Annotation

Pipeline for long-read callset annotation.

Pipeline Steps

• AnnotateAF.wdl.
• AnnotateL1MEAIDFilter.wdl.
• AnnotatePALMER.wdl.
• AnnotateSVAN.wdl.
• AnnotateSVAnnotate.wdl.
• AnnotateVEPHail.wdl.

Cohort

• [HGSVC3]: 65 samples.
  • Data:
    • 32x aligned reads, produced after downsampling by Fabio.
    • High coverage assemblies,

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This is a companion discussion topic for the original entry at github.com/talkowski-lab/lr-annotation/PAV