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.
Need Help?

RNA-seq of 4 WT and 4 VAPA (p.(Glu12*)) skin fibroblast samples.

This dataset contains raw paired-end FASTQ files generated by Illumina sequencing from 8 skin fibroblast samples (4 WT and 4 VAPA (p.(Glu12*))). Libraries were prepared using the Illumina Stranded mRNA Prep kit for RNA sequencing (RNA-seq). Base calling was performed using RTA v4.12.2. Demultiplexing and FASTQ generation were performed locally on the NextSeq 2000 instrument using BCL Convert v4.2.7. Raw sequencing reads were not further processed prior to deposition.

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:0000015
version: 2021-02-23

no general methods research

This data use modifier indicates that use does not allow methods development research (e.g., development of software or algorithms).

DUO:0000018
version: 2021-02-23

not for profit, non commercial use only

This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.

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.

Data Access Policy for VAPA-related datasets (IPMC/UKHD)

This policy governs controlled access to genomic and transcriptomic datasets generated within the project investigating VAPA function, including RNA sequencing data from patient-derived and control skin fibroblasts. Access is restricted to health, medical, or biomedical research purposes, in accordance with the informed consent provided by study participants and the ethics approval governing the underlying study. Use of the data for general methods development research is not permitted. Access is limited to not-for-profit organizations for non-commercial research purposes only. Researchers requesting access must provide documentation of local ethics committee approval for their own proposed research project. Each request will be reviewed individually by the Data Access Committee (DAC) to verify that the intended use is compatible with the consent terms, that participant confidentiality is preserved, and that no re-identification risk arises from the proposed analysis. Access is granted on a per-dataset basis only upon a favorable review by the DAC.

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
EGAS50000002166 RNASeq

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
EGAF50001035928 fastq.gz 2.0 GB
EGAF50001035929 fastq.gz 2.0 GB
EGAF50001035930 fastq.gz 2.4 GB
EGAF50001035931 fastq.gz 2.4 GB
EGAF50001035932 fastq.gz 2.2 GB
EGAF50001035933 fastq.gz 2.2 GB
EGAF50001035934 fastq.gz 2.1 GB
EGAF50001035935 fastq.gz 2.1 GB
EGAF50001035936 fastq.gz 2.1 GB
EGAF50001035937 fastq.gz 2.1 GB
EGAF50001035938 fastq.gz 2.0 GB
EGAF50001035939 fastq.gz 2.0 GB
EGAF50001035940 fastq.gz 2.0 GB
EGAF50001035941 fastq.gz 2.0 GB
EGAF50001035942 fastq.gz 2.2 GB
EGAF50001035943 fastq.gz 2.2 GB
16 Files (34.2 GB)