AUTHOR=Clay Sloane , Evans Adele , Zambrano Regina , Otohinoyi David , Hicks Chindo , Tsien Fern 

TITLE=Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 12 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1299341

DOI=10.3389/fped.2024.1299341

ISSN=2296-2360

ABSTRACT=Rapid advancements in Next Generation Sequencing (NGS) and bioinformatics tools have allowed physicians to obtain genetic testing results in a more rapid, cost-effective, and comprehensive manner than ever before. Around 50% of pediatric sensorineural hearing loss (SNHL) cases are due to a genetic etiology, thus physicians regularly utilize targeted sequencing panels that identify variants in genes related to SNHL. These panels allow for early detection of pathogenic variants which allows physicians to provide anticipatory guidance to families. Molecular testing does not always reveal a clear etiology due to the presence of multigenic variants with varying classifications. This study aims to perform a preliminary bioinformatics characterization of patients with multigenic variants associated with Type II Usher Syndrome and provide an interpretation algorithm for physicians reviewing molecular results with medical geneticists.