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

ABSTRACT: 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.

PROVIDER: EGAS00001001003 | EGA |

REPOSITORIES: EGA