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Article

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Clinical genetics - 1 Dec 2020

Seo Go Hun, Kim Taeho, Choi In Hee, Park Jung-Young, Lee Jungsul, Kim Sehwan, Won Dhong-Gun, Oh Arum, Lee Yena, Choi Jeongmin, Lee Hajeong, Kang Hee Gyung, Cho Hee Yeon, Cho Min Hyun, Kim Yoon Jeon, Yoon Young Hee, Eun Baik-Lin, Desnick Robert J, Keum Changwon, Lee Beom Hee

Abstract excerpt

EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0-68 years) with suspected genetic disorders were subjected to whole exome sequencing. Candidate variants were identified by EVIDENCE and confirmed by testing...

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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: 32901917
DOI: 10.1111/cge.13848
PMCID: PMC7756481

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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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