Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short read sequencing cannot resolve the complex segmental duplications (SDs) to provide direct confirmation of the hypothesis that the rearrangements are caused by non-allelic homologous recombination between the low copy repeats on chromosome 22 (LCR22s). To enable haplotype-specific assembly and rearrangement mapping in LCR22 clusters, we used whole genome (ultra-)long read sequencing of 9 duos (patients and parent of origin).
- 10/10/2024
- 18 samples
- DAC: EGAC00001003120
- Technology: PromethION
An application should be submitted at dac@uzleuven.be.
The procedure described below always applies to re-use transfer of genomic or genetic data that are in an external database. This external database can be the European Genome-phenome Archive (EGA). When a researcher receives requests for reuse of data, or when the database requires an intervention of a data access committee, the DAC will assess these requests for reuse and transfer of genomic or genetic data by third parties. Patient consent to research participation (ICF) and compatibility with new data processing should be checked. An application should be submitted at dac@uzleuven.be. So applications for re-use of genomic/genomic data go through the DAC. In the first place, DAC performs a front desk function here. An application form should be completed by the applicant. To begin with, the DAC employee then checks the ICF and its compatibility with further use. The DAC employee also ensures that a check is made with the competent services to ensure that there are no legal impediments. If i) there are possible commercial interests (commercial use of the data by the recipient or the requesting party is a commercial party), ii) the researcher does not agree, or iii) there is some ambiguity about potential risks of the data transfer (e.g. violation (GDPR) legislation, identity of recipient party, use of the data), the question is referred to the DAC advisory board.
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 |
|---|---|---|
| EGAS50000000601 | Whole Genome Sequencing |
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 | |
|---|---|---|---|---|
| EGAF50000197678 | fastq.gz | 82.8 GB | ||
| EGAF50000197679 | fastq.gz | 34.4 GB | ||
| EGAF50000197680 | fastq.gz | 159.6 GB | ||
| EGAF50000197681 | fastq.gz | 104.4 GB | ||
| EGAF50000197682 | fastq.gz | 160.2 GB | ||
| EGAF50000197683 | fastq.gz | 112.8 GB | ||
| EGAF50000197684 | fastq.gz | 80.7 GB | ||
| EGAF50000197685 | fastq.gz | 137.2 GB | ||
| EGAF50000197686 | fastq.gz | 75.2 GB | ||
| EGAF50000197687 | fastq.gz | 95.5 GB | ||
| EGAF50000197688 | fastq.gz | 64.6 GB | ||
| EGAF50000197689 | fastq.gz | 71.4 GB | ||
| EGAF50000197690 | fastq.gz | 99.0 GB | ||
| EGAF50000197691 | fastq.gz | 97.2 GB | ||
| EGAF50000197692 | fastq.gz | 47.3 GB | ||
| EGAF50000197693 | fastq.gz | 55.8 GB | ||
| EGAF50000197694 | fastq.gz | 72.5 GB | ||
| EGAF50000197695 | fastq.gz | 146.0 GB | ||
| 18 Files (1.7 TB) | ||||