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Article

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

European journal of human genetics : EJHG - 1 May 2018

Dillon Oliver James, Lunke Sebastian, Stark Zornitza, Yeung Alison, Thorne Natalie, Gaff Clara, White Susan M, Tan Tiong Yang

Abstract excerpt

As test costs decline, whole-exome sequencing (WES) has become increasingly used for clinical diagnosis, and now represents the primary alternative to gene panel testing for patients with a suspected genetic disorder. We sought to compare the diagnostic yield of singleton-WES with simulated application of commercial gene panels in children suspected of having a genetically heterogeneous condition. Recruitment,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29453417
DOI: 10.1038/s41431-018-0099-1
PMCID: PMC5945679

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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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