Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

CONCLUSIONS: These results underline the importance of clinical exome sequencing as a versatile and highly useful, non-invasive tool for genetic diagnosis of kidney diseases. Identifying patients who can benefit from targeted therapies, and improving the management of organ transplantation are further expected applications.
PMID: 33226606 [PubMed - as supplied by publisher]

Source: Journal of Nephrology - November 23, 2020 Category: Urology & Nephrology Authors: Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciamà V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D, Pelle A, Cocchi E, Benvenuta C, Baldovino S, Rollino C, Fenoglio R, Sciascia S, Tamagnone M, Vitale C, Calabrese G, Biancone L, Bussol Tags: J Nephrol Source Type: research