Emilia M Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A Lutz, Carrie C L Welch, Michael W Pauciulo, Laura Southgate, Jennifer M Martin, Carmen M Treacy, Christopher J Penkett, Jonathan C Stephens, Harm J Bogaard, Colin Church, Gerry Coghlan, Anna W Coleman, Robin Condliffe, Christina A Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G Kiely, Gabor Kovacs, Jim Lordan, Rajiv D Machado, Robert V Mackenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R Toshner, Anton Vonk Noordegraaf, John Wharton, James M Wild, Stephen John Wort, Allan Lawrie, Martin R Wilkins, Richard C Trembath, Yufeng Shen, Wendy K Chung, Andrew J Swift, William C Nichols, Nicholas W Morrell, Stefan Gräf
Background - Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. Methods - We analyzed 13,037 participants enrolled in the NIHR BioResource - Rare Diseases (NBR) study, of which 1,148 were recruited to the PAH domain. To test for genetic associations between genes and selected phenotypes of pulmonary hypertension (PH), we used the Bayesian rare-variant association method BeviMed...
December 15, 2020: Circulation. Genomic and Precision Medicine