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Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

1 Oct 2020

Abstract excerpt

The diagnosis of primary ciliary dyskinesia (PCD) relies on clinical features and sophisticated studies. The detection of bi-allelic disease-causing variants confirms the diagnosis. However, a standardised genetic panel is not widely available and new disease-causing genes are continuously identified. To assess the accuracy of untargeted whole-exome sequencing (WES) as a diagnostic tool for PCD, patients with...

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PMID: 33447612
DOI: 10.1183/23120541.00213-2020

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