Observational studyThe European respiratory journal2022
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Observational study in The European respiratory journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Approach to the Evaluation and Management of Interstitial Lung Abnormalities: An Official American Thoracic Society Clinical Statement.American journal of respiratory and critical care medicine · 2025Guideline
- Performance of age-adjusted whole genome sequencing telomere length in idiopathic pulmonary fibrosis.American journal of respiratory and critical care medicine · 2026Article
- ILDMDB: a manually curated database of metabolite-disease associations in interstitial lung diseases.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Polygenic risk and rare variants in endotypes of idiopathic pulmonary fibrosis: a genetic analysis of population-based and case-control cohorts.The Lancet. Respiratory medicine · 2026Article
- B and T cells in lung tissue are associated with smoking and forced vital capacity in idiopathic pulmonary fibrosis and familial pulmonary fibrosis.Respiratory research · 2026Article
- Decoding organ fibrosis: mechanistic insights and emerging therapeutic strategies.Signal transduction and targeted therapy · 2026Review
- Efficacy and safety of danazol for pulmonary fibrosis or bone-marrow failure associated with telomere-related gene mutation.ERJ open research · 2026Article
- Age-dependent Genetic Risk in Pulmonary Fibrosis Patients and Relatives.medRxiv : the preprint server for health sciences · 2026Article
- Simultaneous inhibition of ID1 and ID3 mitigates fibroblast activation via cell cycle and MEK/ERK pathways in pulmonary fibrosis.Theranostics · 2026Article
- Progressive pulmonary fibrosis: the importance of identification and intervention.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- Adult male patients withERJ open research · 2026Article
- Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.Respirology (Carlton, Vic.) · 2026Article
- Familial interstitial lung disease: emerging insights into screening and genetic risk.Frontiers in medicine · 2026Review
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- Pulmonary Fibrosis-Focusing on the Future: Aspen Lung Conference 2024 Summary.American journal of respiratory cell and molecular biology · 2025Article
- Genetic Associations in Non-Europeans with Pulmonary Fibrosis: Analysis of the All of Us Cohort.American journal of respiratory and critical care medicine · 2025Article
- Dominant Form ofAmerican journal of respiratory and critical care medicine · 2025Article
- TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.NPJ genomic medicine · 2025Article
- Screening relatives of familial pulmonary fibrosis patients: who, when, how and why?The European respiratory journal · 2025Article
- Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.The Lancet. Respiratory medicine · 2025Observational
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundWhole genome sequencing (WGS) can detect variants and estimate telomere length. The clinical utility of WGS in estimating risk, progression and survival of pulmonary fibrosis patients is unknown.
methodsIn this observational cohort study, we performed WGS on 949 patients with idiopathic pulmonary fibrosis or familial pulmonary fibrosis to determine rare and common variant genotypes, estimate telomere length and assess the association of genomic factors with clinical outcomes.
resultsWGS estimates of telomere length correlated with quantitative PCR (R=0.65) and Southern blot (R=0.71) measurements. Rare deleterious qualifying variants were found in 14% of the total cohort, with a five-fold increase in those with a family history of disease
conclusionAs a single test, WGS can inform pulmonary fibrosis genetic-mediated risk, evaluate the functional effect of telomere-related variants by estimating telomere length, and prognosticate clinically relevant disease outcomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.