Genotype-phenotype relationships in patients with idiopathic pulmonary arterial hypertension / investigating variants in other rare forms of pulmonary hypertension

We have identified a cohort of patients with very severe pulmonary arterial hypertension associated with lung disease. We have performed whole exome sequencing, transcriptomics, miRNA arrays and proteomics and identified a number of high-impact variants of interest and wish to explore these within the cohort of pulmonary arterial hypertension patients within the NIHR Rare Diseases BioResource.