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 …

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

Pangenome graphs can represent all variation between multiple reference genomes, but
current approaches to build them exclude complex sequences or are based upon a single …

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

Although originally primarily a system for functional biology, Arabidopsis thaliana has, owing
to its broad geographical distribution and adaptation to diverse environments, developed …

Segmental duplications (SDs) contribute significantly to human disease, evolution and
diversity but have been difficult to resolve at the sequence level. We present a population …

Motivation The gene content regulates the biology of an organism. It varies between species
and between individuals of the same species. Although tools have been developed to …

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 …

Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical
next-generation sequencing due to the difficulty of detecting structural variation (SV) in all …

Previous studies suggested that the copy number of the human salivary amylase gene,
AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by …