Distant relatedness in biobanks harnessed to identify undiagnosed genetic disease

An innovative analysis of shared segments within the genome -- an indication of distant 'relatedness' -- has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms, fainting and sudden cardiac death. The findings illustrate the feasibility of the new approach to detect undiagnosed carriers of rare disease-causing genetic variants.