Nuclear mitochondrial DNA segments (NUMTs) are generated via transfer of portions of the mitochondrial genome into the nuclear genome. Given their common origin, there is the possibility that both the mitochondrial and NUMT segments may co-amplify using the same set of primers. Thus, analysis of the variation of the mitochondrial genome must take into account this co-amplification of mitochondrial and NUMT sequences. The study herein builds on data from the study by Strobl et al. [2019], in which multiple point heteroplasmies were called with an "N" to prevent labeling NUMT sequences mimicking mitochondrial heteroplasmy and being interpreted as true mitochondrial in origin sequence variants. Each of these point heteroplasmies was studied in greater detail, both molecularly and bioinformatically, to determine whether NUMT or true mitochondrial DNA variation was present. The bioinformatic and molecular tools available to help distinguish between NUMT and mitochondrial DNA and the effect of NUMT sequences on interpretation were discussed.

中文翻译：

---

区分使用 Precision ID mtDNA Whole Genome Panel 扩增的线粒体 DNA 和 NUMT 序列

核线粒体 DNA 片段 (NUMT) 是通过将线粒体基因组的一部分转移到核基因组中而产生的。鉴于它们的共同起源，线粒体和 NUMT 片段有可能使用同一组引物共同扩增。因此，线粒体基因组变异的分析必须考虑到线粒体和 NUMT 序列的这种共同扩增。本文的研究建立在 Strobl 等人的研究数据之上。[2019]，其中多点异质性被称为“N”，以防止标记模拟线粒体异质性的 NUMT 序列，并在原始序列变体中被解释为真正的线粒体。这些点异质性中的每一个都在分子和生物信息学上进行了更详细的研究，以确定是否存在 NUMT 或真正的线粒体 DNA 变异。讨论了可用于帮助区分 NUMT 和线粒体 DNA 的生物信息学和分子工具，以及 NUMT 序列对解释的影响。