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

• Main Authors: Claudia Saglia (Author), Valeria Bracciamà (Author), Luca Trotta (Author), Fiorenza Mioli (Author), Angelo Corso Faini (Author), Giulia Margherita Brach Del Prever (Author), Silvia Kalantari (Author), Maria Luca (Author), Carmelo Maria Romeo (Author), Caterina Scolari (Author), Licia Peruzzi (Author), Pier Luigi Calvo (Author), Alessandro Mussa (Author), Roberta Fenoglio (Author), Dario Roccatello (Author), Claudio Alberti (Author), Diana Carli (Author), Antonio Amoroso (Author), Silvia Deaglio (Author), Tiziana Vaisitti (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 sequencing approach, followed by analyses of in silico gene panels tailored...