Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease.

Summary: Sometimes adults develop a liver problem called cholestasis, where bile backs up and causes damage. Often, doctors can't figure out why it happens. In the past, genetic tests only checked a few specific genes to find the cause. In this study, doctors used a powerful test called Whole Exome Sequencing (WES) to look at all the genes in 21 adult patients. They found the exact genetic cause for about 1 in 4 people! Even better, most of the hidden causes were in genes doctors don't normally check. This shows that looking at the whole genetic picture can help solve the mystery of unexplained liver disease and guide better treatments.