Article
Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.
BMC medical genomics - 31 Mar 2025
Bengl Daniel, Koparir Asuman, Prastyo Wahyu Eka, Remmele Christian, Dittrich Marcus, Flandin Sophie, Shehata-Dieler Waafa, Grimm Clemens, Haaf Thomas, Hofrichter Michaela A H
Abstract excerpt
BACKGROUND/OBJECTIVES: Hearing loss (HL) is one of the most common congenital disorders, affecting 1-2 in 1,000 newborns. Modern genetic diagnostics using large gene panels and/or whole exome analysis (WES) can identify disease-causing mutations in 25-50 % of patients, with higher solve rates in individuals with earlier onset. RESULTS: Here, we used whole-genome sequencing (WGS) to reanalyze 14 index...
Read the complete abstract on PubMedTopics
- Humans
- Exome Sequencing
- Male
- Hearing Loss
- Female
- Whole Genome Sequencing