Shwachman-Diamond syndrome (SDS) Exome sequencing
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.
- 27/05/2015
- 2 samples
- DAC: EGAC00001000000
- Technology: Illumina HiSeq 2000
- PUB DUO:0000019 (version: 2021-02-23)publication requiredThis data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
- US DUO:0000026 (version: 2021-02-23)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- IS DUO:0000028 (version: 2021-02-23)institution specific restrictionThis data use modifier indicates that use is limited to use within an approved institution.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001000264 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00000530678 | cram | 4.6 GB | ||
| EGAF00000530679 | cram | 6.5 GB | ||
| 2 Files (11.2 GB) | ||||