The Complete Sequence of a Human Genome
2022 · paper · Biomedicine
The Telomere-to-Telomere Consortium presents T2T-CHM13, a gapless 3.055 billion base pair human genome sequence for all chromosomes except Y. It corrects earlier reference errors and adds nearly 200 million base pairs, including 1,956 gene predictions.
0 findings
None that passed a second check.
8 minor (typos and the like; most checked by the judge only)
Wording Text cites Fig. 2B for tangles 'manually resolved' using coverage and multiplicity ('(Figs. 2B and fig. S4). In the remaining cases ... required integration of ONT reads (Figs. 2C and 2D)'), but the Fig. 2B legend reads 'The ONT-assisted graph traversal for the 2p11 locus'.
- p. 4 Genome assembly, continued
resolved as unique walks visiting each node the appropriate number of times (Figs. 2B and fig. S4). In the remaining cases, the correct path was ambiguous and required integration of ONT reads (Figs. 2C and 2D)
- p. 24 Fig. 2B legend
The ONT-assisted graph traversal for the 2p11 locus is given by numerical order
Only the authors can say what is right here.
Judge's note: Checked p4 text and p24 legend. The text places Fig. 2B among cases resolved without ONT, while the legend calls it ONT-assisted. ONT may only have confirmed the walk, but the two descriptions conflict. Authors should clarify which category Fig. 2B illustrates.
Second check: another model agreed
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Typo 'the sizes of these repeat arrays varies among chromosomes' should read 'vary'.
- p. 8 Acrocentric chromosomes, distal short arms paragraph
the sizes of these repeat arrays varies among chromosomes
Judge's note: Confirmed on the page 8 image.
Second check: none (judge only)
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Typo Reference 31 prints 'Mc Cartney AM et al.', whereas the author list gives 'Ann M. McCartney'.
- p. 15 Reference 31
Mc Cartney AM et al. Chasing perfection
Judge's note: The space is visible in the page 15 image.
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Typo Reference 29 prints 'Science375, eabj5089 (2022)' with no space between the journal name and the volume.
- p. 15 Reference 29
Science375, eabj5089 (2022)
Judge's note: Visible in the image. Other references print 'Science 376'.
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Typo Fig. 1 legend reads 'AMR, Ad Mixed American'.
- p. 22 Fig. 1 legend (A)
AMR, Ad Mixed American
Only the authors can say what is right here.
Judge's note: Rests on outside knowledge: the 1000 Genomes AMR superpopulation is labelled 'Admixed American'. The legend prints two words, as shown in the crop.
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Typo Fig. 3 legend: 'with inset regions are marked by arrowheads' contains a stray 'are'.
- p. 26 Fig. 3A legend
with inset regions are marked by arrowheads
Judge's note: Visible on the page 26 image.
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Typo Table 1 '# SDs 24097 41528' lacks the thousands separators used elsewhere in the table.
- p. 30 Table 1, Segmental duplications, # SDs row
24097 41528
Judge's note: Cosmetic inconsistency confirmed in the image.
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Typo Table 1 Simple repeat GRCh38 value is printed as '36.5', while other Mbp values use two decimals.
- p. 30 Table 1, RepeatMasker, Simple repeat row
36.5
Judge's note: Cosmetic precision inconsistency seen in the image.
Second check: none (judge only)