Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
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).
- 27 samples
- DAC: EGAC00001003295
- Technologies: Illumina NovaSeq 6000, Sequel
General data access policy, Cologne Rare Kidney Diseases Research Group.
In the interest of our research participants, the datasets deposited in EGA by the Cologne Rare Kidney Diseases Research Group can only be shared after an application for access has been approved by our Data Access Committee. In order to gain data access approval, researchers must agree to keep the requested data secure and use it only for the approved purposes. The Cologne Rare Kidney Diseases Research Group Data Access Committee will individually review requests for access to data stored at the EGA. Requests must contain the following details: The principal applicant’s name, title, position, affiliation, email address, institutional website and mailing address. The name, title, position, affiliation, email address and mailing address of the applicant’s institutional representative, if applicable. The name, title, position, affiliation, and email address of any personnel or students who need access to the data. Any other information needed for unique authentication of the applicant, personnel and students. A scientific abstract providing a brief (approx. 500-word) overview of the research to be carried out, including the proposed uses of the data requested. A list of references to other works by the applicant in the relevant research field, if applicable. A letter of ethics approval for the proposed research project. A detailed description of the data security safeguards and access controls under which any and all requested data will be stored at the applicant's institution. If access to the requested data is granted, we ask that any substantive use of the data in research publications be appropriately acknowledged and/or cited, e.g.: This research used data shared by the Cologne Rare Kidney Diseases Research Group, available from the European Genome-phenome Archive of the European Bioinformatics Institute (accession numbers: study EGAS... and dataset(s) EGAD....
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| Other |