Fig. 1: Single-cell deep mtDNA mutation detection with joint multiomics.
From: Deciphering cell states and genealogies of human haematopoiesis
a, Schematic of ReDeeM workflow. GDN, 1% glyco-diosgenin (Methods). b, Comparison of mtDNA copy number and UMI group size per cell before and after mtDNA enrichment. UMI group size is the number of raw reads in each UMI group. Q30, sequencing quality score of 30 or above (accuracy ≥99.9%). c, Comparison of the total number of confident mtDNA mutations in 7,104 cells before mtDNA enrichment (via the mgatk package28) and after (via UMI consensus calling). d, Mutational signatures in each class of mononucleotide and trinucleotide change by heavy (H) and light (L) strands under the optimized protocol. Mutational signatures are compared across unfiltered (top), 4,831 mtDNA mutations via UMI consensus calling (middle) and a previously reported mtDNA mutational signature in bulk (bottom, adapted from ref. 35). e, Distribution of the number of confident mtDNA mutations per cell before (via mgatk) and after mtDNA enrichment (via UMI consensus calling). f, Network connectedness analysis before (via mgatk, left) and after mtDNA enrichment (via UMI consensus calling, right). Each dot represents one cell and each line connects cells with shared mutations. Connectedness is defined as the number of ‘neighbour’ cells sharing at least one mtDNA mutation with any given cell. Lib., library.
