Informatics and clinical genome sequencing: opening the black box

被引：23

作者：

Moorthie, Sowmiya ^{[1
]}

Hall, Alison ^{[1
]}

Wright, Caroline F. ^{[1
]}

机构：

[1] PHG Fdn, Cambridge, England

来源：

GENETICS IN MEDICINE | 2013年 / 15卷 / 03期

关键词：

bioinformatics; data analysis; massively parallel; next-generation sequencing; MANAGING INCIDENTAL FINDINGS; GENETIC EXCEPTIONALISM; COPY NUMBER; BIOINFORMATICS; CHALLENGES; PHENOTYPE; DATABASE; DISEASE; PATIENT; MAP;

D O I：

10.1038/gim.2012.116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only on the availability of new high-throughput sequencing technologies, but also on the concomitant development of methods and tools for data collection, analysis, and interpretation. It would also be enormously facilitated by the development of decision support systems for clinicians and consideration of how such information can best be incorporated into care pathways. Here we present an overview of the data analysis and interpretation pipeline, the wider informatics needs, and some of the relevant ethical and legal issues. Genet Med 2013:15(3):165-171

引用

页码：165 / 171

页数：7

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