Diagnostics of PKD1 by long-read sequencing

Dac ID Contact Person Email 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