ABCB4-alteration screening in adult-onset cholestasis

Over the last decade, modern genetic studies have provided major insights into the pathophysiology of chronic biliary diseases. Novel computational methods such as genome-wide association studies (GWAS), next-generation sequencing (NGS), and whole-genome sequencing (WGS) have played an important role in identifying possible connections between single nucleotide polymorphisms (SNPs) and various biliary and liver disorders [1]. However, these methods have not assigned specific genetic variants to the corresponding clinical phenotypes.

Source: Digestive and Liver Disease - January 15, 2021 Category: Gastroenterology Authors: Marco Carbone, Vincenzo Cardinale Tags: Editorial Source Type: research