Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Christine Garcia and colleagues use exome sequencing to identify genetic risk factors for familial pulmonary fibrosis. They observe an excess of rare damaging variants in PARN and RTEL1 in probands with pulmonary fibrosis and show that these variants cosegregate with disease in the affected families.