Genomics of platelet disorders

Research output: Contribution to journalArticle (Academic Journal)peer-review

8 Citations (Scopus)
243 Downloads (Pure)

Abstract

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 emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.
Original languageEnglish
Pages (from-to)20-24
Number of pages5
JournalHaemophilia
Volume22
Issue numberSuppl S5
Early online date13 Jul 2016
DOIs
Publication statusPublished - Jul 2016

Keywords

  • genetic diagnosis
  • next-generation sequencing
  • platelet function disorders
  • platelet number disorders

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