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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

1 Mar 2020

Abstract excerpt

OBJECTIVE: To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS: probe-based hybridization for target enrichment followed by Ion Torrent sequencing. Targeted high-coverage sequencing and analysis was performed on 2249 neurology patients from Australia and New Zealand (1054 Version 1, 1195 Version 2) from 2012 to 2015. No selection criteria were...

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PMID: 32153140
DOI: 10.1002/acn3.51002

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