Published July 28, 2022
| Version v1.1
Dataset
Open
Project Adotto Tandem-Repeat Regions and Annotations
Authors/Creators
Description
Collection of inputs and outputs from a project attempting to catalog tandem-repeat regions in Human genomes. Details on the project can be found on the github.
Notes
Changes:
- Updated pathogenic repeats. 54 pathogenic regions are unchanged, 2 have been changed, and 6 added.
```
changed: (is_now -> was)
NOTCH2NLA -> NOTCH2NLC
NOTCH2NLC -> NOTCH2NL
added:
EIF4A3, PRNP, TBX1, PRDM12, DMD, ZIC3
```
- Renamed annotations' "motif" key back to "repeat" for `truvari anno trf` compatibility.
- hom_span column normalized as hom_pct - percent of bases in the regions annotated as homopolymers
Files
Files
(99.7 MB)
| Name | Size | Download all |
|---|---|---|
|
md5:0227b8f62f596c4eceee939f306f8fea
|
99.7 MB | Download |