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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

7 Oct 2018

Abstract excerpt

BACKGROUND: According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have significantly improved clinical diagnosis, compared to traditional sequencing methods. METHODS: A total of 213 analyses by NGS (167 by whole exome sequencing (WES) and 46 by multigene panels tests) were...

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PMID: 30293248
DOI: 10.1002/mgg3.480

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