DAC
Diagnostics of PKD1 by long-read sequencing
| Dac ID | Contact Person | Access Information | |
|---|---|---|---|
| EGAC00001000559 | Dorien J.M. Peters | d [dot] j [dot] m [dot] peters [at] lumc [dot] nl | No additional information is available |
This DAC controls 1 dataset:
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001003103 | Cohort of 19 ADPKD patients characterized using long-read sequencing. The variant identification provided high sensitivity in identifying PKD1 pathogenic variants, with a diagnostic yield of 94.7%. This dataset includes all sequencing data (BAM files) of the 19 patients, in addition to their raw variants (unfiltered) obtained from the long-read sequencing as well as Sanger sequencing (VCF file). | PacBio RS II | 19 |
