Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 江培勇教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1016/j.clinbiochem.2015.04.022 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/4WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/4Scopus source URL
其它资讯
摘要The discovery of cell-free DNA molecules in plasma has opened up numerous opportunities in noninvasive diagnosis. Cell-free DNA molecules have become increasingly recognized as promising biomarkers for detection and management of many diseases. The advent of next generation sequencing has provided unprecedented opportunities to scrutinize the characteristics of cell-free DNA molecules in plasma in a genome-wide fashion and at single-base resolution. Consequently, clinical applications of circulating cell-free DNA analysis have not only revolutionized noninvasive prenatal diagnosis but also facilitated cancer detection and monitoring toward an era of blood-based personalized medicine. With the remarkably increasing throughput and lowering cost of next generation sequencing, bioinformatics analysis becomes increasingly demanding to understand the large amount of data generated by these sequencing platforms.In this Review, we highlight the major bioinformatics algorithms involved in the analysis of cell-free DNA sequencing data. Firstly, we briefly describe the biological properties of these molecules and provide an overview of the general bioinformatics approach for the analysis of cell-free DNA. Then, we discuss the specific upstream bioinformatics considerations concerning the analysis of sequencing data of circulating cell-free DNA, followed by further detailed elaboration on each key clinical situation in noninvasive prenatal diagnosis and cancer management where downstream bioinformatics analysis is heavily involved. We also discuss bioinformatics analysis as well as clinical applications of the newly developed massively parallel bisulfite sequencing of cell-free DNA. Finally, we offer our perspectives on the future development of bioinformatics in noninvasive diagnosis.
着者Chan L.L., Jiang P.
期刊名称CLINICAL BIOCHEMISTRY
出版年份2015
月份10
日期1
卷号http://aims.cuhk.edu.hk/converis/portal/Publication/48
期次15
出版社Elsevier BV
出版地Netherlands
页次962 - 975
国际标準期刊号0009-9120
电子国际标準期刊号1873-2933
语言英式英语
关键词Bioinformatics analysis, Cancer diagnosis, Next generation sequencing, Prenatal diagnosis
