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

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...

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ग्रंथसूची विवरण

मुख्य लेखकों:	Claudia Saglia, Valeria Bracciamà, 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 Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	BMC 2023-11-01
श्रृंखला:	BMC Medical Genomics
विषय:	Clinical exome sequencing Next-generation sequencing Kidney Diseases Liver Diseases Genetic re-analysis Variant re-classification
ऑनलाइन पहुंच:	https://doi.org/10.1186/s12920-023-01747-w
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