Supplementary Figure 9: Likely errors in the GIAB benchmark identified by CCS callsets. | Nature Biotechnology

Supplementary Figure 9: Likely errors in the GIAB benchmark identified by CCS callsets.

From: Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Supplementary Figure 9

Manual curation of discrepancies between the GIAB benchmark and CCS variant callsets identifies benchmark errors for all variant types that are correctable using the CCS variant callsets. Shown are four loci that the GIAB benchmark records as homozygous reference where CCS reads identify likely heterozygous variation: (a) Three SNVs supported by CCS reads and 6 kb matepair reads. (b) A 2 bp insertion supported by CCS reads, 10X Genomics reads, and 6 kb matepair reads. (c) A 328 bp insertion supported by CCS reads and assemblies. (d) An 83 bp deletion supported by CCS reads.

Back to article page