Article

Comprehensive genetic analysis of<i>STRC</i>variants in hereditary hearing impairment using long-read sequencing

2024-11-07

Abstract excerpt

<h4>Background: </h4> Sensorineural hearing impairment (SNHI) is a common disorder with a significant genetic component. Genetic testing for SNHI often involves next-generation sequencing (NGS), but SNHI-related pathogenic STRC variants cannot be directly addressed by conventional NGS due to the complex genomic scenario derived from large genomic rearrangements and a highly homologous pseudogene. Long-read sequenc...

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Literature Corpus work: 7507de32-1cfe-56a4-b246-2d704da492f8
DOI: 10.1101/2024.11.05.24316795

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