Long read sequencing to detect structural variants in Indian patient with non-syndromic autism spectrum disorders
This study involved performing long read whole genome sequencing using Oxford Nanopore Technology platform on to detect causative structural variants in patients with non-syndromic autism spectrum disorder. This study was performed on 23 such children in whom prior karyotyping, Fragile-X analysis (in males), chromosomal microarray and whole exome sequencing did not identify a causative variant.
- 07/03/2025
- 23 samples
- DAC: EGAC00001002576
- Technology: MinION
FRIGE IHG Data Access Committee reviews the aim and methodology of the proposed study for which access to anonymised data is requested.
Detailed policy document and data access agreement will be shared once the proposed study is reviewed.
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 |
|---|---|---|
| EGAS50000000842 | 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 | |
|---|---|---|---|---|
| EGAF50000311046 | fastq.gz | 30.4 GB | ||
| EGAF50000311047 | fastq.gz | 24.7 GB | ||
| EGAF50000311048 | fastq.gz | 24.3 GB | ||
| EGAF50000311049 | fastq.gz | 17.9 GB | ||
| EGAF50000311050 | fastq.gz | 12.9 GB | ||
| EGAF50000311051 | fastq.gz | 15.5 GB | ||
| EGAF50000311052 | fastq.gz | 18.8 GB | ||
| EGAF50000311053 | fastq.gz | 10.0 GB | ||
| EGAF50000311054 | fastq.gz | 20.2 GB | ||
| EGAF50000311055 | fastq.gz | 18.5 GB | ||
| EGAF50000311056 | fastq.gz | 23.6 GB | ||
| EGAF50000311057 | fastq.gz | 18.5 GB | ||
| EGAF50000311058 | fastq.gz | 21.7 GB | ||
| EGAF50000311059 | fastq.gz | 30.9 GB | ||
| EGAF50000311060 | fastq.gz | 28.1 GB | ||
| EGAF50000311061 | fastq.gz | 19.7 GB | ||
| EGAF50000311062 | fastq.gz | 14.7 GB | ||
| EGAF50000311063 | fastq.gz | 27.5 GB | ||
| EGAF50000311064 | fastq.gz | 21.0 GB | ||
| EGAF50000311065 | fastq.gz | 15.7 GB | ||
| EGAF50000311066 | fastq.gz | 24.5 GB | ||
| EGAF50000311067 | fastq.gz | 18.9 GB | ||
| EGAF50000311068 | fastq.gz | 14.7 GB | ||
| 23 Files (472.4 GB) | ||||