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A Single Complex Agpat2 Allele In A Patient With Partial Lipodystrophy data

The dataset contains data from a single patient sample with partial lipodystrophy. The data is supplied in the form of 2 files. , a BAM file containing the (raw) sequencing data and a VCF file containing the called variants. The data is limited to a region consisting of the AGPAT2 gene on chromosome 9 and 1MB on both sides.

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Data access policy for single patient Lipodystrophy study

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, 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
EGAS00001003177 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
EGAF00002067331 bam 44.0 MB
EGAF00002113000 vcf 586.8 kB
2 Files (44.6 MB)