Study

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease

Study ID Alternative Stable ID Type
EGAS00001001003 Other

Study Description

We established and validated sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1. This setup overcomes the complication of unspecific capture of pseudogenes by applying a mapping algorithm efficiently and specifically aligning reads to the PKD1 locus.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001091 We established and validated a sequence capture based NGS testing approach for PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing of PKD1 variants challenging. In the publication accompaying this dataset (An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease, Eisenberger et.al., PLoS one), we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. This dataset contains the raw PKD1 reads of all patients from the publication. Illumina HiSeq 1500 55

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Publications

Publications Citations
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One 10:2015 e0116680
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