Genomics of platelet disorders

被引：7

作者：

Westbury, S. K. ^{[1
]}

Mumford, A. D. ^{[1
,2
,3
]}

机构：

[1] Univ Bristol, Sch Clin Sci, Level 7 Bristol Royal Infirm, Bristol BS2 8HW, Avon, England

[2] Bristol Haemophilia Comprehens Care Ctr, Bristol, Avon, England

[3] West England Genom Med Ctr, Bristol, Avon, England

来源：

HAEMOPHILIA | 2016年 / 22卷

基金：

英国医学研究理事会;

关键词：

genetic diagnosis; next-generation sequencing; platelet function disorders; platelet number disorders; THROMBOCYTOPENIA; MUTATIONS; DEFECTS; ELTROMBOPAG; DISEASE;

D O I：

10.1111/hae.12964

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：20 / 24

页数：5

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