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

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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Main Authors: Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter
Format: Article
Language:English
Published: BMC 2025-03-01
Series:BMC Medical Genomics
Subjects:
WGS
Hearing loss
PTPRQ
Alphafold
Deep intronic variant
Online Access:https://doi.org/10.1186/s12920-025-02122-7
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https://doi.org/10.1186/s12920-025-02122-7

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