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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

10 Jun 2016

Abstract excerpt

BACKGROUND: The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion...

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PMID: 27287197
DOI: 10.1186/s13023-016-0462-7

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