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

• Main Authors: Sloane Clay (Author), Adele Evans (Author), Regina Zambrano (Author), David Otohinoyi (Author), Chindo Hicks (Author), Fern Tsien (Author)
• 格式: 圖書
• 出版: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

IntroductionRapid 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...