Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

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

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

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 …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …

Although most existing genome assemblers are based on de Bruijn graphs, the construction
of these graphs for large genomes and large k-mer sizes has remained elusive. This …

Advances in long-read sequencing technologies and genome assembly methods have enabled
the recent completion of the first telomere-to-telomere human genome assembly, which …

Even though the recent advances in ‘complete genomics’ revealed the previously inaccessible
genomic regions, analysis of variations in centromeres and other extra-long tandem …

Centromeric variation has been linked to cancer and infertility, but centromere sequences
contain multiple tandem repeats and can only be assembled manually from long error-prone …

Motivation Extra-long tandem repeats (ETRs) are widespread in eukaryotic genomes and
play an important role in fundamental cellular processes, such as chromosome segregation. …