Abstract Telomere-to-telomere (T2T) assemblies reveal new insights into the structure and
function of the previously 'invisible'parts of the genome and allow comparative analyses of …

Contiguous genome sequence assemblies will help us to realize the full potential of crop
translational genomics. Recent advances in sequencing technologies, especially long-read …

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 …

Pangenome references address biases of reference genomes by storing a representative
set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles …

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

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

The prevalence of highly repetitive sequences within the human Y chromosome has
prevented its complete assembly to date and led to its systematic omission from genomic …

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 …

Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of map** short-read sequencing data …