Researchers have developed a new strategy for characterizing large populations of patients with autosomal dominant polycystic kidney disease (ADPKD). Rossetti and co-workers used their approach of next-generation DNA sequencing to characterize a cohort of 230 patients with ADPKD. They found that their process was able to detect definitely and likely pathogenic variants in 115 (63%) of 183 patients with typical ADPKD.
ORIGINAL RESEARCH PAPER
Rossetti, S. et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J. Am. Soc. Nephrol. doi:10.1681/ASN.2011101032
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New strategy for characterizing large ADPKD cohorts. Nat Rev Nephrol 8, 252 (2012). https://doi.org/10.1038/nrneph.2012.45
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DOI: https://doi.org/10.1038/nrneph.2012.45
