Diagnostics of PKD1 by long-read sequencing

Dorien J.M. Peters
d.j.m.peters@lumc.nl

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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