Fig. 4: Evaluation of misassemblies in human genome assemblies.
From: Efficient near-telomere-to-telomere assembly of nanopore simplex reads
Only misassemblies larger than 50 bp are counted, because smaller errors can typically be corrected by polishing. For the HG002-specific results in a,d,e, misassemblies are accurately assessed against the HG002 Q100 ground truth. By contrast, other assemblies are approximately evaluated using Flagger29 and NucFlag35, because no ground truth is available. In d,e, segmental duplication (SD) and centromere annotations are shown in blue and in yellow, respectively, with overlapping regions highlighted in green and misassembly sites marked with red triangles. a, Relationship between misassembly length and assembly contiguity in fully phased HG002 assemblies. b, Misassemblies in all trio-binning human assemblies. c, Misassemblies in all non-trio-binning human assemblies. d, Genome-wide distribution of misassemblies in the HG002 ONT standard fully phased assembly produced by hifiasm (ONT). e, Genome-wide distribution of misassemblies in the HG002 ONT ultra-long fully phased assembly produced by hifiasm (ONT).
