Fig. 3: Restricted heteroplasmy dynamics of deleterious mtDNA variants in POLGD274A cell lines.
From: Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics
a Histogram showing the numbers of detected variants per cell, stratified by indicated mutation type (synonymous, missense, truncating, pathogenic). b Cumulative distribution plots of variant allele frequencies (VAFs) across single cells in the KI36 and KIA2 line, stratified by the indicated mutation type. Each curve represents a single variant, with select variants being highlighted. c Boxplots showing the distribution of Shannon entropy values for individual variants, stratified by the indicated mutation type. Boxes show the median (center line) and the interquartile range (25th–75th percentiles; box). Whiskers extend to the 5th and 95th percentiles. Outliers are displayed as single points. Variant counts (synonymous, missense, truncating, pathogenic): KI36, 2236, 4684, 339, and 43; KIA2, 2634, 5073, 463, and 41. d UMAPs and histograms showing the VAF distribution of mtDNA variants highlighted in (b).
