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

The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

Here the Human Pangenome Reference Consortium presents a first draft of the human
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …

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 current human reference genome, GRCh38, represents over 20 years of effort to generate
a high-quality assembly, which has benefitted society 1 , 2 . However, it still has many …

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically
assessed because of the limitations of mapping short-read sequencing data 1 , 2 . Here …

Long-read sequencing technologies substantially overcome the limitations of short-reads but
have not been considered as a feasible replacement for population-scale projects, being a …

There has been tremendous progress in phased genome assembly production by combining
long-read data with parental information or linked-read data. Nevertheless, a typical …

Reference-free genome phasing is vital for understanding allele inheritance and the impact
of single-molecule DNA variation on phenotypes. To achieve thorough phasing across …

Despite recent advances in the length and the accuracy of long-read data, building
haplotype-resolved genome assemblies from telomere to telomere still requires considerable …