Extended Data Fig. 3. Performance of whole-genome reconstruction on individually rare variants using synthetic long-read sequencing as a method to phase parents.

This method was performed on the parental genomes in 4 cases (Case ID 5, 8, 9 and 10). Accuracy could not be assessed for Case ID10 as no born child was available for comparison. Variants with an allele frequency <0.1% or not present in the gnomAD database were considered rare. Only high-confidence variants (as described in Methods) from both Tell-Seq and PCR-free WGS protocols were evaluated.