ena-DATASET-LUMC-05-12-2016-12:52:28:584-17 - samples
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下载链接：
https://www.omicsdi.org/dataset/ega/EGAD00001003103
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资源简介：
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).EGA dataset EGAD00001003103
创建时间：
2017-07-26
