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. Author manuscript; available in PMC: 2024 Feb 6.
Published in final edited form as: Circ Genom Precis Med. 2023 Feb 22;16(2):e003726. doi: 10.1161/CIRCGEN.122.003726

Figure 2 |. Genome sequencing for the identification of a novel pathogenic substrate in an autosomal dominant LQTS pedigree.

Figure 2 |

Shown in panel A is the genome sequencing variant filtering strategy used to identify ultra-rare non-synonymous candidate variants present in all affected individuals who underwent genome sequencing (yellow circles). Panel B lists the candidate genes/variants that were considered for further analysis. Of the 7 ultra-rare variants, the ALG10B-p.G6S variant represented the top candidate disease causing gene/variant based on biological plausibility. In panel C is the Sanger sequencing chromatogram confirming the c.16G>A (ALG10B-p.G6S) variant.