Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

doi:10.1038/gim.2018.39

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Article

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Ewans Lisa J, Schofield Deborah, Shrestha Rupendra, Zhu Ying, Gayevskiy Velimir, Ying Kevin, Walsh Corrina, Lee Eric, Kirk Edwin P, Colley Alison, Ellaway Carolyn, Turner Anne, Mowat David, Worgan Lisa, Freckmann Mary-Louise, Lipke Michelle, Sachdev Rani, Miller David, Field Michael, Dinger Marcel E, Buckley Michael F, Cowley Mark J, Roscioli Tony

Abstract excerpt

PURPOSE: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional...

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PMID: 29595814
DOI: 10.1038/gim.2018.39

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

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