Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

doi:10.1038/gim.2014.172

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Article

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015

Consugar Mark B, Navarro-Gomez Daniel, Place Emily M, Bujakowska Kinga M, Sousa Maria E, Fonseca-Kelly Zoë D, Taub Daniel G, Janessian Maria, Wang Dan Yi, Au Elizabeth D, Sims Katherine B, Sweetser David A, Fulton Anne B, Liu Qin, Wiggs Janey L, Gai Xiaowu, Pierce Eric A

Abstract excerpt

PURPOSE: Next-generation sequencing-based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with regard to test accuracy and reproducibility have not been fully defined. METHODS: We developed a targeted enrichment and next-generation sequencing approach for genetic diagnostic testing of patients with inherited eye disorders, including...

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PMID: 25412400
DOI: 10.1038/gim.2014.172
PMCID: PMC4572572

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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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