Cologne University Hospital, Institute of Human Genetics, Pathomechanisms of Rare Kidney Diseases Research Group DAC

Florian Erger
florian.erger@uk-koeln.de

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Dataset ID	Description	Technology	Samples
EGAD00001011064	This dataset contains CLCNKA/CLCNKB locus alignment data from 27 patients with Bartter syndrome and structural variants encompassing the CLCNKB gene. Due to data protection regulations and in accordance with the patient consent, only relevant alignments from the following regions are shared: hg19: chr1:16,300,000-16,400,000 hg38 (linked read dataset only): chr1:16,000,000-16,100,000 Methods to generate libaries were: long-range amplicon PCR (24 samples), targeted long-fragment enrichment (Samplix/Xdrop technology, 4 samples), long-read whole genome (PacBio Sequel II HiFi reads, 3 samples), 10X linked read short read whole genome (1 sample).	Illumina NovaSeq 6000 Sequel	27