DAC
The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data Access Committee
| Dac ID | Contact Person | Access Information | |
|---|---|---|---|
| EGAC00001000493 | Prof. Edwin-Chan | hyechan [at] cuhk [dot] edu [dot] hk | No additional information is available |
This DAC controls 2 datasets:
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001002146 | The dataset contains the whole genome sequencing data of a family with two unaffected parents and two probands that showed Hereditary spastic paraplegias symptoms. Sequencing reads were aligned to human genome (GRCh38) using BWA-MEM, followed by indel-realignment and PCR-duplicates marking. Alignment results are available for download in BAM format. | HiSeq X Ten | 4 |
| EGAD00001005114 | A targeted gene panel that covers coding, noncoding, and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases | NextSeq 500 | 136 |
