A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be considered by patients and clinicians before embarking on WGS. Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.

中文翻译：

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基因组数据中的线粒体 DNA 变异：诊断提升和预测意义

现在可以通过分析全基因组测序 (WGS) 数据中的线粒体 DNA (mtDNA) 变体来研究广泛的罕见疾病表现。然而，mtDNA 突变可能会导致意外的、扩展的表型并具有生殖影响。我们建议患者和临床医生在开始 WGS 之前考虑这些。可在全基因组测序 (WGS) 数据中检测到的线粒体 DNA (mtDNA) 变异可导致各种严重程度不同的表型。作者呼吁就 mtDNA 变异的不确定性交流以及筛查的风险与收益进行更广泛的辩论。