The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease: Human genetics

Abstract

The biological significance of somatic mutations in rare genetic liver diseases has remained elusive. A study using genomic sequencing paired with experimental cell-based assays has shed light on the selective advantage and accumulation of somatic variants in SERPINA1 found in liver explants from patients with alpha-1 anti-trypsin deficiency.