诊断学理论与实践 ›› 2018, Vol. 17 ›› Issue (02): 132-135.doi: 10.16150/j.1671-2870.2018.02.002
蔡贞, 郑磊
收稿日期:
2018-03-19
出版日期:
2018-04-25
发布日期:
2018-04-25
通讯作者:
郑磊 E-mail: nfyyzl@163.com
基金资助:
Received:
2018-03-19
Online:
2018-04-25
Published:
2018-04-25
中图分类号:
蔡贞, 郑磊. 循环肿瘤细胞检测技术的现状和发展思考[J]. 诊断学理论与实践, 2018, 17(02): 132-135.
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JCO Precision Oncology, 2017,1:12. ·专家论坛· 27 精准医学时代遗传性疾病的分子诊断 28 李牛, 王剑 29 (上海交通大学医学院附属上海儿童医学中心分子诊断实验室,上海 200127) 30 摘要: 31 关键词:遗传性疾病; 精准医学; 分子诊断; 高通量测序; 挑战 32 中图分类号:R715.5 文献识别码:A 文章编号:1671-2870(2018)02-0136-05 33 DOI:10.OI:10.16150/j.1671-2870.2018.02.003 34 Title 35 Zuozhe 36 Danwei 37 Abstract 38 keywords 39 [参考文献] [1] Boycott KM, Rath A, Chong JX, et al.International coo-peration to enable the diagnosis of all rare genetic di-seases[J]. Am J Hum Genet,2017,100(5):695-705. [2] 钱欣, 罗玉琴, 徐晓姹, 等. 2619例高龄孕妇羊水细胞染色体核型分析[J]. 中华医学遗传学杂志,2009,26(6):712-713. [3] 张鼎, 胡小梅, 胡爱武. 荧光原位杂交技术及其在遗传学中的应用进展[J]. 中华全科医学,2010,8(6):762-764. [4] Shen Y, Wu BL.Microarray-based genomic DNA profi-ling technologies in clinical molecular diagnostics[J]. Clin Chem,2009,55(4):659-669. [5] Hu L, Yao X, Huang H, et al.Clinical significance of germline copy number variation in susceptibility of human diseases[J]. J Genet Genomics,2018,45(1):3-12. [6] Schouten JP, McElgunn CJ, Waaijer R, et al. 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