Article
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
American journal of respiratory and critical care medicine - 1 Jul 2017
Petrovski Slavé, Todd Jamie L, Durheim Michael T, Wang Quanli, Chien Jason W, Kelly Fran L, Frankel Courtney, Mebane Caroline M, Ren Zhong, Bridgers Joshua, Urban Thomas J, Malone Colin D, Finlen Copeland Ashley, Brinkley Christie, Allen Andrew S, O'Riordan Thomas, McHutchison John G, Palmer Scott M, Goldstein David B
Abstract excerpt
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...
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