02 November 2020>: Lab/In Vitro Research
Detecting Rare Variants and Heteroplasmy of Mitochondrial DNA from High-Throughput Sequencing in Patients with Coronary Artery Disease
Qian Jia 12ABE* , Lu Xu 1CE* , Juan Shen 3CD , Yanping Wei 3CD , Huaiqian Xu 3B , Jionglong Shi 24D , Zhilong Jia 24D , Xiaojing Zhao 12D , Chunlei Liu 12D , Qin Zhong 12F , Yaping Tian 1AD* , Kunlun He 12A*DOI: 10.12659/MSM.925401
Med Sci Monit 2020; 26:e925401
Table 2 Summary of heteroplasmy detection in our study.
Sample | No. of samples (case/control) | No. of samples carrying at least one heteroplasmy | No. of heteroplasmies* (case/control) | No. of non-synonymous heteroplasmies* (case/control) |
---|---|---|---|---|
Discovery | 165 (85/80) | 165 | 191 (72/36) | 46 (18/9) |
Validation | 6200 (100/100) | 200 | 477 (187/69) | 120 (39/13) |
* The heteroplasmic sites were split into 3 groups according to the percentage of samples carrying 1 heteroplasmic site (e.g., the percentage >0%, >2%, and 5%). For each group, we counted the number of heteroplasmic sites. |