惠州学院西湖论坛利⽤线粒体的突变实现细胞谱系追踪cimatrone8.5
经济研究参考这篇⽂章讲述的是利⽤单细胞测序技术（单细胞RNA与单细胞ATAC），线粒体的体细胞突变可以当作天然的barcodes，⽤来衡量cellular states与clonal dynamics。 已经有报道的学习这些的methods有很多，⽐如利⽤heritable markers来得到lineage relationships and cell states. 但是这些都不能⽤在⼈类上。⼈类的lineage-tracing study主要靠检测体细胞突变，⽐如SNV，CNV以及STR等。⽤单细胞的whole-genome sequencing来做这件事情不仅很费钱，⽽且还有很⾼的错误率。线粒体DNA的好处是突变率⽐较⾼，⽽且基因组也不是很⼤（省钱）。
作者在这篇⽂章中对⽐了很多不同methods的线粒体基因组的覆盖率并做了⽐较，包括bulk和single-cell的RNA与ATAC sequencing。这是⼀个很不错的思路，可以把测序⽂件中产⽣的线粒体的序列加以好好利⽤，⽽不是像之前⼀样丢弃掉。
⽂献中⼀些名词：
Proof-of-principle experiment：Proof of Principle studies are an early stage of clinical drug development when a compound has shown potential in animal models and early safety testing. This step of proof-of-principle (PoP) or proof-of-concept (PoC)
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often links between Phase-I and dose ranging Phase-II studies. These small-scale studies are designed to detect a signal that the drug is active on a pathophysiologically relevant mechanism, as well as preliminary evidence of efficacy in a clinically relevant endpoint.
Heteroplasmy：Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases.
Vatiance decomposition: The variance decomposition indicates the amount of information each variable contributes to the other variables in the autoregression. It determines how much of the forecast error variance of each of the variables can be explained by exogenous shocks to the other variables.
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