Ontology highlight
ABSTRACT:
SUBMITTER: Swietlik EM
PROVIDER: S-EPMC7892262 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Swietlik Emilia M EM Greene Daniel D Zhu Na N Megy Karyn K Cogliano Marcella M Rajaram Smitha S Pandya Divya D Tilly Tobias T Lutz Katie A KA Welch Carrie C L CCL Pauciulo Michael W MW Southgate Laura L Martin Jennifer M JM Treacy Carmen M CM Penkett Christopher J CJ Stephens Jonathan C JC Bogaard Harm J HJ Church Colin C Coghlan Gerry G Coleman Anna W AW Condliffe Robin R Eichstaedt Christina A CA Eyries Mélanie M Gall Henning H Ghio Stefano S Girerd Barbara B Grünig Ekkehard E Holden Simon S Howard Luke L Humbert Marc M Kiely David G DG Kovacs Gabor G Lordan Jim J Machado Rajiv D RD Mackenzie Ross Robert V RV McCabe Colm C Moledina Shahin S Montani David D Olschewski Horst H Pepke-Zaba Joanna J Price Laura L Rhodes Christopher J CJ Seeger Werner W Soubrier Florent F Suntharalingam Jay J Toshner Mark R MR Vonk Noordegraaf Anton A Wharton John J Wild James M JM Wort Stephen John SJ Lawrie Allan A Wilkins Martin R MR Trembath Richard C RC Shen Yufeng Y Chung Wendy K WK Swift Andrew J AJ Nichols William C WC Morrell Nicholas W NW Gräf Stefan S
Circulation. Genomic and precision medicine 20201215
<b>Background</b> - 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. <b>Methods</b> - 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 a ...[more]