… A n becomes A 1 for n > 1). All compressed reads were then aligned to one another to
identify and correct small errors, and differences within simple sequence repeats were masked. …

Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

… showing percentage of TEs by class (DNA, LTR, LINE, SINE, and retroposon) that were
unlifted from T2T-CHM13 gap-filled regions (nonsyntenic, red) and syntenic regions (gray); the n …

The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has resolved
complex regions of the genome, including repetitive and homologous regions. Here, we …

… , succeeded in assembling across large HSat1–3 arrays in the human genome, leaving their
approximate locations in the genome assembly as enormous gaps filled with placeholder “N…

… This provides a complete traversal of the sequence graph of size N, or the estimated array
length provided by sequence coverage. The algorithm is designed to include each edge at …

The DNA-binding protein PRDM9 directs positioning of the double-strand breaks (DSBs)
that initiate meiotic recombination in mice and humans. Prdm9 is the only mammalian …

… Taking advantage of the low abundance of N 6 -methyl-deoxyadenosine (hereafter mA) in
human DNA 17 , we fused the antibody-binding protein A to the nonspecific deoxyadenosine …

The largest gaps in the human genome assembly correspond to multi-megabase
heterochromatic regions composed primarily of two related families of tandem repeats, Human …