Ena-DATASET-LUMC-05-12-2016-12:52:28:584-17 - samples
Ontology highlight
ABSTRACT: 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).
PROVIDER: EGAD00001003103 | EGA |
REPOSITORIES: EGA
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