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UMCU_Molpheno_Restricted

This dataset contains Whole Genome Sequencing and, if available, RNA-sequencing and/or ATAC-sequencing data obtained from PBMCs derived from blood samples of 34 patients with intellectual disability and/or multiple congenital anomalies and their biological parents (58) included in the University Medical Center Utrecht (The Netherlands).

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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
EGAF00002395279 bam 71.5 GB
EGAF00002395280 bam 83.1 GB
EGAF00002395281 bam 64.9 GB
EGAF00002395282 bam 77.7 GB
EGAF00002395283 bam 65.8 GB
EGAF00002395284 bam 75.3 GB
EGAF00002395285 bam 67.6 GB
EGAF00002395286 bam 77.6 GB
EGAF00002395287 bam 61.2 GB
EGAF00002395288 bam 68.2 GB
EGAF00002395289 bam 107.3 GB
EGAF00002395290 bam 78.7 GB
EGAF00002395291 bam 69.5 GB
EGAF00002395292 bam 52.1 GB
EGAF00002395293 bam 76.8 GB
15 Files (1.1 TB)