The data used in Vermeulen et al. 2017 American Journal of Human Genetics
This dataset consists of TLA data in the parents of 9 healthy families and 11 B-thalasemia risk families during pregnancy, cell-free DNA sequencing data and Fetal DNA sequencing where available. TLA data was collected for the CFTR region in all healthy families and the CYP21A2 region in two of the healthy families. TLA data was collected for the HBB region in the risk families. In each pregnant mother, cell-free DNA was collected, enriched for the region of interest using sureselect pulldown and sequenced. Samples are labled Mother_X, Father_X and CVS_X for the healthy families and HBB_Mother_X, HBB_Father_X and HBB_CVS_X. cfDNA files can be found under the maternal sample, and each consist of three indices used to increase the maximum number of unique molecules per SNP. Both raw and processed cfDNA data is provided, raw data is mapped using BWA MEM, sorted using samtools and restricted to the region of interest for the sake of patient privacy. Processed data is mapped using BWA MEM, sorted using samtools, duplicate filtered using samtools rmdup, overlap-clipped using picardtools and restricted to the region of interest.
- 55 samples
- DAC: EGAC00001000432
- Technology: NextSeq 500
- NPUNCU DUO:0000018 (version: 2021-02-23)not for profit, non commercial use onlyThis data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis 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 |
|---|---|---|
| EGAS00001002622 | Other |