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GenomicsBioscientia Molecular Genetics DAC
Data Access Committee EGAC00001000271
EGAC00001000271 | EGA
Genomicsena-DATASET-BIOSCIENTIA-04-12-2014-09:03:57:327-147 - samples
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 stra...
EGAD00001001091 | EGA
GenomicsAn efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease
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...
EGAS00001001003 | EGA
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