What is it about?
Pulmonary fibrosis has complicated genetic influences which may predict clinical outcomes in patients. Mutations in telomere related genes and short telomere lengths are genetic risk factors that can affect the course of illness. We find that whole genome sequencing can accurately identify mutations and estimate telomere length in patients with pulmonary fibrosis. This information can help clarify genetic risk factors and offer clinically useful information in patients with pulmonary fibrosis. As the cost of whole genome sequencing drops, this may be a useful adjunctive test for some patients.
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Why is it important?
Whole genome sequencing offers a wealth of genetic information. Combined with dropping costs, it is increasingly important to understand the utility of doing whole genome sequencing in pulmonary fibrosis, which is heavily influenced by genetic factors.
Perspectives
This article showcases a wide range of studies that should intrigue epidemiologists, practicing clinicians, geneticists, and biologists alike.
David Zhang
Columbia University
Read the Original
This page is a summary of: Utility of whole genome sequencing in assessing risk and clinically-relevant outcomes for pulmonary fibrosis, European Respiratory Journal, August 2022, European Respiratory Society (ERS),
DOI: 10.1183/13993003.00577-2022.
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