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.
- Metadata.
- 67 total samples.
- Renames NA21487 to GM21487.
- Duplicates NA19129 (also includes GM19129) and NA2
- Data:
This is a companion discussion topic for the original entry at github.com/talkowski-lab/lr-annotation/AnnotateDuplications