Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome seque...

Source: BMC Medical Genomics - November 27, 2023 Category: Genetics & Stem Cells Authors: Claudia Saglia, Valeria Bracciam à, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenog Tags: Research Source Type: research