Genomic benchmark datasets are essential to driving the field of genomics and
bioinformatics. They provide a snapshot of the performances of sequencing technologies …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

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

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

Apes possess two sex chromosomes—the male-specific Y chromosome and the X
chromosome, which is present in both males and females. The Y chromosome is crucial for …

Pangenome graphs can represent all variation between multiple genomes, but existing
methods for constructing them are biased due to reference-guided approaches. In response …

Since its initial release in 2001, the human reference genome has undergone continuous
improvement in quality, and the recently released telomere-to-telomere (T2T) version—T2T …

Human centromeres have been traditionally very difficult to sequence and assemble owing
to their repetitive nature and large size. As a result, patterns of human centromeric variation …

Advances in long-read sequencing and assembly now mean that individual labs can
generate phased genomes that are more accurate and more contiguous than the original …

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