GoKawiil(a) Summary of support per variant per cell, stratified by donor, represented as the percent of non-zero entries in the cell-by-variant ReDeeM matrix. The percent of variants with exactly 1, 2, or ≥3 molecules of support per cell appears above the corresponding bars. (b,c) Connectedness analyses, including key parameter adjustments (left) and the effects on mean connectivity (right). (d) The same analyses as in Fig. 1, but for the two other donors profiled by Weng et al., showing similar positional bias in LMHC variants. (e) Annotation of all variants called using the ReDeeM workflow, including variants called by MQuad (purple) for four donors (top). Meta pileup of the position of the mismatches for variants called by MQuad (bottom). The values above each plot represent the fold enrichment of mismatches at the edges of molecules. Panels b,c adapted with permission from ref. 2, Elsevier.
Artefacts in single-cell mtDNA analyses misinform phylogenies
Why This Matters
This article highlights how artefacts in single-cell mitochondrial DNA (mtDNA) analyses can lead to misleading phylogenetic inferences, emphasizing the importance of accurate variant detection methods. Understanding these artefacts is crucial for improving the reliability of genetic studies and downstream applications in personalized medicine and evolutionary research.
Key Takeaways
- Artefacts can distort phylogenetic relationships in single-cell mtDNA studies.
- Connectedness analyses reveal biases affecting variant support.
- Accurate variant annotation is essential to avoid misinterpretation of mitochondrial lineage data.
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