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UMCU Molpheno Closed

This dataset contains Whole Genome Sequencing and, if available, RNA-sequencing and/or ATAC-sequencing data obtained from PBMCs derived from blood samples of two patients with intellectual disability and/or multiple congenital anomalies and eight parents included in the University Medical Center Utrecht (The Netherlands). Data access is closed.

Request Access

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
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
EGAF00002395277 bam 53.7 GB
EGAF00002395278 bam 59.5 GB
EGAF00002395378 bam 72.8 GB
EGAF00002395379 bam 69.9 GB
EGAF00002395380 bam 63.6 GB
EGAF00002395381 bam 72.5 GB
EGAF00002395382 bam 72.1 GB
EGAF00002395383 bam 63.2 GB
EGAF00002395384 bam 59.9 GB
EGAF00002395465 bam 2.6 GB
EGAF00002395466 bam 2.4 GB
EGAF00002395467 bam 5.2 GB
EGAF00002395468 bam 4.9 GB
EGAF00002395469 bam 3.0 GB
EGAF00002395613 bam 53.6 GB
15 Files (659.0 GB)