Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

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 ana...

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Detalles Bibliográficos
Autores principales: Swietlik, Emilia M., Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Welch, Carrie C.L., Pauciulo, Michael W., Southgate, Laura, Martin, Jennifer M., Treacy, Carmen M., Penkett, Christopher J., Stephens, Jonathan C., Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Coleman, Anna W., Condliffe, Robin, Eichstaedt, Christina A., Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Grünig, Ekkehard, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Vonk Noordegraaf, Anton, Wharton, John, Wild, James M., Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R., Trembath, Richard C., Shen, Yufeng, Chung, Wendy K., Swift, Andrew J., Nichols, William C., Morrell, Nicholas W., Gräf, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892262/
https://www.ncbi.nlm.nih.gov/pubmed/33320693
http://dx.doi.org/10.1161/CIRCGEN.120.003155

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