Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail.
Study reveals complex role of polyploidy in cancer and treatment resistance
Polyploidy is a state where a cell contains more copies of the genetic material than the usual “diploid” cell, which contains two copies.