Accession | PRJCA004385 | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Title | Sequence and structure characteristics of 22 deletion breakpoints in intron 44 of DMD gene based on long-read sequencing | ||||||||||||||||
Relevance | Medical | ||||||||||||||||
Data types |
Map
Targeted Locus (Loci) Variation Raw sequence reads Genome sequencing |
||||||||||||||||
Organisms | Homo sapiens | ||||||||||||||||
Description | Exon deletions take up to 80% of mutations in DMD gene and intron 44 harbored more than 25% deletion start points. We investigated fine structures of breakpoints in intron 44 to find potential mechanisms of large deletions in intron 44 through Oxford Nanopore Sequencing. | ||||||||||||||||
Sample scope | Multiisolate | ||||||||||||||||
Release date | 2021-01-29 | ||||||||||||||||
Grants |
|
||||||||||||||||
Submitter | Yi Dai (pumchdy@pumch.cn) | ||||||||||||||||
Organization | Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College | ||||||||||||||||
Submission date | 2021-01-29 |
Resource name | Description |
---|---|
BioSample (22) show | - |