paired-end FASTQ files from the study: Identification of the cause of juvenile parkinsonism in a case_SYNJ1
The dataset consists of three samples: two controls and one case of juvenile Parkinsonism. Whole Exome Sequencing (WXS) was performed on these samples using hybrid selection for library preparation. Sequencing was carried out on the Illumina NextSeq 500 platform. For each sample, two FASTQ files containing paired-end reads (R1 and R2) were generated. The data deposited consists of the corresponding FASTQ files.
- 17/04/2024
- 3 samples
- DAC: EGAC00001003090
- Technology: NextSeq 500
DAA for the group formed in 'DAC for the study molecular biomarkers associated with the diagnosis and severity of genetic diseases
At the time of requesting access to the data deposited by this DAC, the project in which the researcher will use these data must, without exception, be funded and therefore must be approved by the corresponding Ethics Committee (CE), for studies involving human participants.
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 |
|---|---|---|
| EGAS00001007686 | Exome Sequencing |
- There have been no changes in the dataset. Only in the name of the study
- Dataset Released
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 | |
|---|---|---|---|---|
| EGAF50000096206 | fastq.gz | 845.8 MB | ||
| EGAF50000096207 | fastq.gz | 853.4 MB | ||
| EGAF50000096208 | fastq.gz | 2.1 GB | ||
| EGAF50000096209 | fastq.gz | 2.1 GB | ||
| EGAF50000096210 | fastq.gz | 1.5 GB | ||
| EGAF50000096211 | fastq.gz | 1.5 GB | ||
| 6 Files (8.9 GB) | ||||