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

Automatic Tools and Workflows
1

Long-Read Annotation

This repository serves as a home for all scripts, workflows and processes for annotating long-read callsets.

Cohort

  • HGSVC.
    • Data:
      • 65 total samples.
      • 32x aligned reads, produced after downsampling by Fabio.
      • High coverage assemblies, derived directly from HGSVC.
    • Notes:
      • The metadata file has 67 samples:
        • Misses NA24385 (HG002 in Terra).
        • Renames NA21487 to GM21487.
This is a companion discussion topic for the original entry at github.com/talkowski-lab/lr-annotation/FillPhasedGenotypes