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Article

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

Scientific reports - 30 Sept 2021

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

Abstract excerpt

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 manifesting mild to moderate or higher degrees of SNHL. Candidate...

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Share to Disease Susceptibility
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34593925
DOI: 10.1038/s41598-021-99007-3
PMCID: PMC8484668

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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