About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Single-Cell DNA and Protein Sequencing Data from a Pediatric UBA1-Mutated MDS Patient

This dataset contains raw single-cell DNA and protein sequencing data (FASTQ files) generated from a pediatric patient diagnosed with UBA1-mutated MDS. Samples were collected at two clinical timepoints and processed using single-cell DNA and Protein sequencing technology. The dataset includes paired-end sequencing reads for all libraries. Data are provided under controlled access through the associated Data Access Committee.

Request Access

DUO:0000006
version: 2021-02-23

health or medical or biomedical research

This data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.

DUO:0000012
version: 2021-02-23

research specific restrictions

This data use modifier indicates that use is limited to studies of a certain research type.

DUO:0000021
version: 2021-02-23

ethics approval required

This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.

DUO:0000025
version: 2021-02-23

time limit on use

This data use modifier indicates that use is approved for a specific number of months.

DUO:0000026
version: 2021-02-23

user specific restriction

This data use modifier indicates that use is limited to use by approved users.

DUO:0000046
version: 2021-02-23

non-commercial use only

This data use modifier indicates that use of the data is limited to not-for-profit use.

Data Access Policy for the Pediatric UBA1-Mutated MDS Single-Cell DNA Sequencing Study

Access to this dataset is restricted to qualified researchers for bona fide research purposes. The data consist of controlled-access single-cell DNA and protein sequencing data derived from a pediatric patient diagnosed with UBA1-mutated MDS. Applicants must demonstrate that: - The proposed research is scientifically valid and ethically approved by their institutional review board or equivalent body. - The data will be used solely for research related to hematologic disorders, immunology, VEXAS syndrome, or related biomedical investigations. - No attempts will be made to re-identify study participants. - The data will not be redistributed to third parties. - Data will be stored and processed in secure computing environments compliant with applicable data protection regulations. Access is granted for the approved project only and is time-limited as specified in the data access agreement.

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
EGAS50000001651 Resequencing

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 Quality Report
Located in
i
EGAF50000639945 fastq.gz 3.4 GB
EGAF50000639946 fastq.gz 3.3 GB
EGAF50000639947 fastq.gz 3.3 GB
EGAF50000639948 fastq.gz 3.4 GB
EGAF50000639949 fastq.gz 3.4 GB
EGAF50000639950 fastq.gz 3.4 GB
EGAF50000639951 fastq.gz 3.3 GB
EGAF50000639952 fastq.gz 3.4 GB
EGAF50000639953 fastq.gz 5.7 GB
EGAF50000639954 fastq.gz 5.9 GB
EGAF50000639955 fastq.gz 5.9 GB
EGAF50000639956 fastq.gz 5.7 GB
EGAF50000639957 fastq.gz 5.7 GB
EGAF50000639958 fastq.gz 6.0 GB
EGAF50000639959 fastq.gz 5.7 GB
EGAF50000639960 fastq.gz 5.9 GB
EGAF50000639961 fastq.gz 8.2 GB
EGAF50000639962 fastq.gz 9.3 GB
EGAF50000639963 fastq.gz 8.2 GB
EGAF50000639964 fastq.gz 9.3 GB
EGAF50000639965 fastq.gz 8.2 GB
EGAF50000639966 fastq.gz 9.3 GB
EGAF50000639967 fastq.gz 8.2 GB
EGAF50000639968 fastq.gz 9.3 GB
EGAF50000639969 fastq.gz 8.2 GB
EGAF50000639970 fastq.gz 9.7 GB
EGAF50000639971 fastq.gz 8.1 GB
EGAF50000639972 fastq.gz 9.6 GB
EGAF50000639973 fastq.gz 8.2 GB
EGAF50000639974 fastq.gz 9.6 GB
EGAF50000639975 fastq.gz 8.1 GB
EGAF50000639976 fastq.gz 9.6 GB
32 Files (214.6 GB)