nstd191 (Dai et al. 2021)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Pidong Li
- Description:
- Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin-encoding DMD gene. The RNA-seq and cDNA capture sequencing showed a complete absence of transcripts of exons 3-55. Optical mapping identified a 55Mb pericentric inversion between Xp21 and Xq21. Subsequently, the whole genome sequencing (WGS) using the nanopore-based long-read sequencing determined the exact inversion breakpoints at 32,915,769 and 87,989,324 of X chromosome. See Variant Summary counts for nstd191 in dbVar Variant Summary.
- Publication(s):
- Dai et al. 2021