Gene sequencing solves five cases of idiopathic liver disease
Whole exome sequencing may identify genetic causes of unexplained liver disease after an unrevealing conventional work-up, US researchers say.
Whole exome sequencing involves sequencing around 20,000 human protein-encoding genes.
Yale researchers performed whole exome sequencing and deep phenotyping of 19 unrelated adults with idiopathic liver disease who had undergone a comprehensive work-up that did not yield a diagnosis, as reported in the Journal of Hepatology.
Whole exome sequencing yielded an actionable