Mitochondrial DNA variation across 56,434 individuals in gnomAD

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Figure 4.
Figure 4.

gnomAD v3.1 samples by mtDNA haplogroup and nuclear ancestry. (A) The number of samples is shown by mtDNA top-level haplogroup. Color indicates mtDNA haplogroups phylogenetically associated with African (purple), Asian (green), or European (blue) origin (Lott et al. 2013). (B) For each haplogroup, box plots show the number of homoplasmic SNVs per sample compared to the GRCh38 reference genome (haplogroup H) with the median shown in color. (C) For each haplogroup, stacked bar charts show nuclear ancestry from nuclear genome analysis, with colors as in panel E. (D) For each haplogroup, the percentage of samples from each inferred nuclear ancestry is shown in a heat map. Dash indicates 0 samples, and 0 indicates a percentage between 0–1. (E) The number of samples is shown by inferred nuclear ancestry. (F) For each inferred nuclear ancestry shown in panel D, stacked bar chart shows mtDNA haplogroups phylogenetically associated with African (purple), Asian (green), or European (blue) origin (Lott et al. 2013).

This Article

  1. Genome Res. 32: 569-582

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