Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.

Abstract excerpt

The stereocilin (STRC) gene is a significant contributor to mild-to-moderate sensorineural hearing loss (SNHL), particularly in cases of biallelic STRC deletions and copy number alterations. Although pathogenic single nucleotide variants (SNVs) or small insertion-deletions (indels) have been investigated across the coding region of STRC, the pseudogene STRCP1, which shares 98% homology with the STRC gene, makes...

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