Next generation sequencing in pediatric hepatology and liver transplantation
Emanuele Nicastro, Lorenzo D'Antiga – 28 October 2017 – 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 yield in this field.