RAmbler resolves complex repeats in human Chromosomes 8, 19, and X

Table 1.

Comparison of the assemblies produced by RAmbler, hifiasm, LJA, HiCANU, and Verkko on the HiFi reads extracted around the centromeres of human Chromosomes 8 and X, for several choices of input assemblies and HiFi reads

Chr Input assembly HiFi reads Depth Repetitive region # Selected reads Selected reads sum (Mb) Expected size (Mb) Assembler
Start (Mb) End (Mb) RAmbler hifiasm LJA HiCANU Verkko
8 HG38 HG002 67.5× 43.5 46.5 15,620 249.038 3.689 # Contigs 2 3 39 66
Total (bp) 3,885,290 3,632,973 7,573,022 8,186,622
Longest contig 3,627,559 1,843,336 2,701,877 1,374,826
HG00733 32.8× 43.5 46.5 7241 99.356 3.029 # Contigs 1 3 74 44 103
Total (bp) 3,805,715 3,692,973 6,653,621 6,279,128 7,267,808
Longest contig 3,805,715 3,483,042 1,384,931 1,002,430 1,710,467
HG01346 26× 42.0 48.0 9579 177.120 6.812 # Contigs 3 5 91 73 134
Total (bp) 7,553,039 6,637,843 12,660,338 13,840,156 13,671,832
Longest contig 6,229,877 6,213,919 4,017,234 6,043,945 2,981,689
T2T CHM13 32.4× 43.5 46.5 5591 101.370 3.129 # Contigs 1 1 1 10 1
Total (bp) 3,040,965 3,040,965 3,040,948 3,343,237 3,032,370
Longest contig 3,040,965 3,040,965 3,040,948 3,033,722 3,032,370
MAT002 HG002 66× 43.5 47.0 14,393 229.495 3.477 # Contigs 1 3 26 51
Total (bp) 3,271,813 3,309,709 6,861,347 7,415,002
Longest contig 3,271,813 1,776,606 2,701,877 1,374,826
X HG38 HG002 34.2× 57.5 63.0 9665 155.687 4.552 # Contigs 1 1 1 1 N/A
Total (bp) 4,678,725 4,678,719 4,663,887 4,669,944
Longest contig 4,678,725 4,678,719 4,663,887 4,669,944
HG00733 31.8× 57.25 64.0 15,333 209.268 6.581 # Contigs 2 3 114 103 170
Total (bp) 5,653,597 5,279,187 12,115,053 13,853,128 13,649,195
Longest contig 3,813,195 3,408,909 1,675,295 2,970,002 3,984,187
HG01346 25.5× 57.25 64.0 9679 179.004 7.020 # Contigs 1 5 74 92 140
Total (bp) 7,378,373 7,072,503 12,305,066 14,376,243 13,718,592
Longest contig 7,378,373 3,232,572 4,247,266 3,280,524 4,251,271
T2T CHM13 34× 57.5 62.0 8488 153.883 4.526 # Contigs 1 2 3 22 10
Total (bp) 4,468,109 4,533,307 4,536,587 5,081,155 4,575,146
Longest contig 4,468,109 4,486,438 4,074,724 2,016,666 1,940,381
MAT002 HG002 33× 57.5 62.0 9362 150.793 4.569 # Contigs 2 2 3 4
Total (bp) 4,566,785 4,566,777 4,542,009 4,546,175
Longest contig 4,542,010 4,542,004 4,180,812 4,141,556
  • Numbers in bold indicate the assemblies with the fewest contigs in each row.

  • (–) The assembler timed out after 96 h; (N/A) the assembler finished execution but produced no output.

This Article

  1. Genome Res. 35: 863-876

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