Fig. 1: Identifying somatic loss-of-heterozygosity in resected CCMs. | Nature Communications

Fig. 1: Identifying somatic loss-of-heterozygosity in resected CCMs.

From: Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations

Fig. 1

a Diagram of generation of single nucleus DNA-sequencing data. Frozen, surgically resected lesions are homogenized into single nuclei, sorted based on DAPI staining to enrich for high quality nuclei prep and sequenced using Mission Bio’s TapestriTM platform. b Panel of 9 lesions with an activating PIK3CA variant and either 0 or 1 loss-of-function variants in a CCM gene previously identified with targeted sequencing and/or ddPCR26. CCM 5075 is a control sample with a full complement of pathogenic variants, biallelic loss-of-function variants in a CCM gene (germline CCM2 exon 2–10 deletion and somatic 1 bp deletion) and an activating variant in PIK3CA. S: Somatic, G: Germline. c Venn diagram representing the proportion of heterozygous calls that we expect to see in regions inclusive of a CCM gene in WT (teal circles) vs PIK3CAGoF variant (orange circles).

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