桑格测序
色素性视网膜炎
大规模并行测序
DNA测序
外显子
遗传学
计算生物学
深度测序
生物
基因
基因组
作者
Jing Wang,Victor Wei Zhang,Yanming Feng,Tian Xia,Fang-Yuan Li,Cavatina K. Truong,Guoli Wang,Pei-Wen Chiang,Richard A. Lewis,Lee-Jun Wong
标识
DOI:10.1167/iovs.14-14936
摘要
Clinical validation and consistently deep coverage of individual exons allow for the accurate identification of all types of mutations including point mutations, exonic deletions, and large insertions. Our comprehensive MPS approach greatly improves diagnostic acumen for RP in a cost- and time-efficient manner.
科研通智能强力驱动
Strongly Powered by AbleSci AI