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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RNA-seq and Hi-C data of a chromothripsis patient's iPS cells

This dataset contains RNA-seq and Hi-C data files of induced pluripotent stem (iPS) cells and iPS cell-derived neural progenitors (NPCs) derived from a germline chromothripsis patient and both parents. iPS cells of the patient (cell lines 14 and 15), the father (lines 23 (with two replicates) and 32) and mother (line 30) were differentiated to NPCs and RNA was collected on day 0, day 7 and day 10 of differentiation. In addition, Hi-C data for two iPS cell-derived NPC lines from the patient (14 and 15) and two lines from the father (23 and 32) was generated.

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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:0000042
version: 2021-02-23

general research use

This data use permission indicates that use is allowed for general research use for any research purpose.

Data access policy Department of Biomedical Genetics of UMC Utrecht

The Data Access Committee of the Department of Biomedical Genetics of UMC Utrecht (DAC-DGB-UMCU) governs data access to genomic datasets and accompanying metadata via a two-step access request procedure. Access to data will only be granted to qualified users for appropriate use. Step 1: contact the DAC-DBG-UMCU at DACDBG@umcutrecht.nl, providing a brief summary of your research proposal and the requested datasets. Your proposal will be reviewed based on the necessity of the requested dataset to answer the specific research question. Step 2: The DAC will request additional documentation to complete your application. The DAC-DBG-UMCU will decide if data access is permitted by evaluating the feasibility of the project, the scientific profile of the applicant(s), and whether the relevant ethical approvals justify the proposed research. Only unanimous voting results in acceptation of the request.

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
EGAS00001001896 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 Quality Report
Located in
i
EGAF00001227438 bam 4.3 GB Report
EGAF00001227439 bam 4.3 GB Report
EGAF00001227440 bam 4.5 GB Report
EGAF00001227441 bam 3.7 GB Report
EGAF00001227442 bam 4.4 GB Report
EGAF00001227443 bam 3.9 GB Report
EGAF00001227444 bam 5.0 GB Report
EGAF00001227445 bam 2.2 GB Report
EGAF00001227446 bam 2.1 GB Report
EGAF00001227447 bam 2.1 GB Report
EGAF00001227448 bam 2.2 GB Report
EGAF00001227449 bam 5.6 GB Report
EGAF00001227450 bam 3.6 GB Report
EGAF00001227451 bam 4.4 GB Report
EGAF00001227452 bam 2.3 GB Report
EGAF00001227453 bam 2.3 GB Report
EGAF00001227454 bam 2.3 GB Report
EGAF00001227455 bam 12.2 GB Report
EGAF00001227456 bam 9.7 GB Report
EGAF00001227457 bam 13.5 GB Report
EGAF00001227458 bam 13.6 GB Report
EGAF00001427089 fastq.gz 5.9 GB Report
EGAF00001427090 fastq.gz 5.4 GB Report
23 Files (119.5 GB)