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

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 assess its di...

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Detalles Bibliográficos
Autores principales: Kim, So Young, Lee, Seungmin, Seo, Go Hun, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Park, Moo Kyun, Lee, So min, Kim, Bonggi, Yi, Nayoung, Kim, Namju Justin, Koh, Doo Hyun, Hwang, Sohyun, Keum, Changwon, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484668/
https://www.ncbi.nlm.nih.gov/pubmed/34593925
http://dx.doi.org/10.1038/s41598-021-99007-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484668/
https://www.ncbi.nlm.nih.gov/pubmed/34593925
http://dx.doi.org/10.1038/s41598-021-99007-3

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