Article
Genomics of platelet disorders.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2016
Westbury S K, Mumford A D
Abstract excerpt
Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has...
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