Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme...
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 diagnostic accuracy. We performed ES of 263 probands...
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Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
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TN_cdi_doaj_primary_oai_doaj_org_article_debc16281735427387c11105f50bd90f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_debc16281735427387c11105f50bd90f
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-99007-3
