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Article

Next generation sequencing in pediatric hepatology and liver transplantation.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society - 1 Feb 2018

Nicastro Emanuele, D'Antiga Lorenzo

Abstract excerpt

Next generation sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Because nearly half of the children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplantations are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic...

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PMID: 29080241
DOI: 10.1002/lt.24964

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