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
Agency program Grant ID Grant title
CAMS Innovation Fund for Medical Sciences (CIFMS) 2016-I2M-1-002
National Key Research and Development Program of China 2017YFC1001902
National Key Research and Development Program of China 2016YFC0901500
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

Project Data

Resource name Description
BioSample (22)  show -