Detecting PKD1 variants in Polycystic Kidney Disease patients by single-molecule long-read sequencing
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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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|