基因
寡核苷酸池
新一代测序 (NGS)
基因突变文库
抗体
IVDR 解决方案
技术说明
方案
产品说明书
Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
使用 Twist 产品进行临床快速全外显子组测序
拉德堡德大学医学中心如何利用外显子组测序来研究疾病
演讲者
Marcel Nelen
拉德堡德大学医学中心基因组诊断分部副主任
本次网络研讨会中涵盖的内容
了解奈梅亨基因组诊断中心的诊断过程
思考为什么患者和临床医师都能从临床全外显子组测序中受益。
了解奈梅亨基因组诊断中心如何开发快速、自动化的全外显子组测序工作流程
探讨使用 Twist 外显子组生成的数据的完整性和均匀度
Clinical exome sequencing was launched in Nijmegen in late 2010 and the first applications included 100 intellectual disability trios as well as 250 exomes investigating strong heterogeneous diseases of blindness, deafness, movement disorders, OXPHOS disorders, and cancer.Since then, Dr. Marcel Nelen and his team at Radboud University Medical Centre have run more than 40,000 clinical exomes and expanded their clinical spectrum such that all major organ systems have their own “virtual” gene panel.
填写您的详细信息，观看网络研讨会
