Bioscientia Molecular Genetics DAC

Dac ID Contact Person Email Access Information
EGAC00001000271 Christian Decker christian [dot] decker [at] bioscientia [dot] de No additional information is available

This DAC controls 1 dataset:

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