Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

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

Despite their importance in disease and evolution, highly identical segmental duplications
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has
resolved complex regions of the genome, including repetitive and homologous regions …

The pace of human brain development is highly protracted compared with most other
species,,,,,–. The maturation of cortical neurons is particularly slow, taking months to years to …

De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

The emergence of the three germ layers and the lineage-specific precursor cells
orchestrating organogenesis represent fundamental milestones during early embryonic …