Article

Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss

2024-09-30

Abstract excerpt

The diagnostic yield of genetic testing for pediatric sensorineural hearing loss (SNHL) has remained at around 40% for over a decade despite newly discovered causative genes and the expanded use of exome sequencing (ES). This stagnation may be due to (1) a focus on coding regions of the genome and (2) an inability to resolve variants in complex genomic regions due to reliance on short-read sequencing technologies....

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Literature Corpus work: 445964bd-9e60-5a02-a2d2-ef7017a3b10c
DOI: 10.1101/2024.09.30.24314377

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