Extended Data Fig. 10: Model for calling sSNVs from diploid and tetraploid cells by LiRA. | Nature Aging

Extended Data Fig. 10: Model for calling sSNVs from diploid and tetraploid cells by LiRA.

From: Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity

Extended Data Fig. 10

A, In diploid cells, LiRA identified the complete linkage between each sSNV candidate and its adjacent germline heterozygous mutation, which distinguishes true sSNVs from technical artifacts. In tetraploid cardiomyocytes, sSNVs present in one out of the four haplotypes were able to be called by LiRA when the reads violating complete linkage were lost due to allelic or locus dropout. B, Dropout status of a tetraploid cell determined by its two diploid origin cells. Rows and columns denote the dropout status of two diploid origin cells, respectively. mut-allele, mutant allele of the germline mutation; ref-allele, reference allele of the germline mutation.

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