Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

doi:10.1038/s41431-018-0114-6

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Article

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

European journal of human genetics : EJHG - 1 May 2018

Costain Gregory, Jobling Rebekah, Walker Susan, Reuter Miriam S, Snell Meaghan, Bowdin Sarah, Cohn Ronald D, Dupuis Lucie, Hewson Stacy, Mercimek-Andrews Saadet, Shuman Cheryl, Sondheimer Neal, Weksberg Rosanna, Yoon Grace, Meyn M Stephen, Stavropoulos Dimitri J, Scherer Stephen W, Mendoza-Londono Roberto, Marshall Christian R

Abstract excerpt

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical use. We previously showed that WGS could feasibly be deployed as a single molecular test capable of a higher diagnostic rate than current practices, in a prospectively recruited cohort of 100 children meeting criteria for chromosomal microarray analysis. In...

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PMID: 29453418
DOI: 10.1038/s41431-018-0114-6
PMCID: PMC5945683

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