Copied to clipboard!
Nanopore sequencing of FSHD, BAMS and healthy control fibroblast cell lines
The goal was to resolve the complex genetic and epigenetic structures of D4Z4 alleles, a macrosatellite whose desilencing results in FSHD.
- Type: Whole Genome Sequencing
- Archiver: European Genome-phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD50000001551 | PromethION | 12 |
| Publications | Citations |
|---|---|
|
Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.
Genome Res 36: 2026 827-848 |
0 |