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Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

Abstract 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 rate...

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Principais autores: Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2025-03-01
סדרה:BMC Medical Genomics
נושאים:
WGS
Hearing loss
PTPRQ
Alphafold
Deep intronic variant
גישה מקוונת:https://doi.org/10.1186/s12920-025-02122-7
תגים: הוספת תג
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