Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

doi:10.1038/gim.2016.95

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Article

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017

Farwell Hagman Kelly D, Shinde Deepali N, Mroske Cameron, Smith Erica, Radtke Kelly, Shahmirzadi Layla, El-Khechen Dima, Powis Zöe, Chao Elizabeth C, Alcaraz Wendy A, Helbig Katherine L, Sajan Samin A, Rossi Mari, Lu Hsiao-Mei, Huether Robert, Li Shuwei, Wu Sitao, Nuñes Mark E, Tang Sha

Abstract excerpt

PURPOSE: Diagnostic exome sequencing (DES) is now a commonly ordered test for individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for characterized diseases, exome sequencing has the capacity to uncover novel candidate genes for disease. METHODS: Family-based DES included analysis of both characterized and novel genetic etiologies. To evaluate candidate genes for disease in the...

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PMID: 27513193
DOI: 10.1038/gim.2016.95
PMCID: PMC5303763

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