Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Miriam ZacchiaFrancesca Del Vecchio BlancoFrancesco TrepiccioneGiancarlo BlasioAnnalaura TorellaAndrea MellusoGiovanna CapolongoRosa Maria PollastroGiulio PilusoValentina Di IorioFrancesca SimonelliDavide ViggianoAlessandra PernaVincenzo NigroGiovambattista Capasso

Published in: Journal of nephrology (2021)

In conclusion, these findings indicate the potential for a genetic panel to provide useful information at both clinical and epidemiological levels.

Keyphrases

genome wide
polycystic kidney disease
dna methylation
copy number
human health
climate change