Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Abstract Variant prioritization of exome sequencing (ES) data for molecular diagnosis of sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant challenge. This study used an automated variant prioritization system (“EVIDENCE”) to analyze SNHL patient data and asse...

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Autores principales: So Young Kim, Seungmin Lee, Go Hun Seo, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Moo Kyun Park, So min Lee, Bonggi Kim, Nayoung Yi, Namju Justin Kim, Doo Hyun Koh, Sohyun Hwang, Changwon Keum, Byung Yoon Choi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/debc16281735427387c11105f50bd90f
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