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Article

Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.

International journal of molecular sciences - 1 Feb 2023

Groen Karlijn, van der Vis Joanne J, van Batenburg Aernoud A, Kazemier Karin M, Grutters Jan C, van Moorsel Coline H M

Abstract excerpt

In only around 40% of families with pulmonary fibrosis (PF) a suspected genetic cause can be found. Genetic overlap analysis of Whole Exome Sequencing (WES) data may be a powerful tool to discover new shared variants in novel genes for PF. As a proof of principle, we first selected unrelated PF patients for whom a genetic variant was detected (n = 125) in established PF genes and searched for overlapping...

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PMID: 36769106
DOI: 10.3390/ijms24032790
PMCID: PMC9917193

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