Article
The Genetic Landscape of Familial Pulmonary Fibrosis.
American journal of respiratory and critical care medicine - 15 May 2023
Liu Qi, Zhou Yuan, Cogan Joy D, Mitchell Daphne B, Sheng Quanhu, Zhao Shilin, Bai Youhuang, Ciombor Kristen K, Sabusap Carleen M, Malabanan M Merced, Markin Cheryl R, Douglas Katrina, Ding Guixiao, Banovich Nicholas E, Nickerson Deborah A, Blue Elizabeth E, Bamshad Michael J, Brown Kevin K, Schwartz David A, Phillips John A, Martinez-Barricarte Ruben, Salisbury Margaret L, Shyr Yu, Loyd James E, Kropski Jonathan A, Blackwell Timothy S
Abstract excerpt
Rationale and Objectives: Up to 20% of idiopathic interstitial lung disease is familial, referred to as familial pulmonary fibrosis (FPF). An integrated analysis of FPF genetic risk was performed by comprehensively evaluating for genetic rare variants (RVs) in a large cohort of FPF kindreds. Methods: Whole-exome sequencing and/or candidate gene sequencing from affected individuals in 569 FPF kindreds was...
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