Journal article
An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis
S Petrovski, JL Todd, MT Durheim, Q Wang, JW Chien, FL Kelly, C Frankel, CM Mebane, Z Ren, J Bridgers, TJ Urban, CD Malone, AF Copeland, C Brinkley, AS Allen, T O'Riordan, JG McHutchison, SM Palmer, DB Goldstein
American Journal of Respiratory and Critical Care Medicine | AMER THORACIC SOC | Published : 2017
Abstract
Rationale: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. Objectives: The aim of this study was to use whole-exome sequencing to improve understanding of the genetic architecture of pulmonary fibrosis. Methods: We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis clinically classified as IPF according to American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Latin American Thoracic Association guidelines (81.3%), usual interstitial pneumonia secondary to autoimmune conditions (11.5%), or fibrosing nonspecific interstitial pneumonia (..
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Awarded by National Institutes of Health
Funding Acknowledgements
The authors thank members of the Institute for Genomic Medicine, Columbia University (B. Copeland, S. Kamalakaran, B. Krueger, and R. Padmanabhan), and Matt McKevitt of Gilead Sciences, Inc., for ongoing commitment that enables this work. S.P. is a National Health and Medical Research Council Career Development Fellowship fellow. The authors also thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung Grand Opportunity (GO) Sequencing Project (HL-102923), the Women's Health Initiative Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010). In addition, the authors thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/about.