Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Innovations in sequencing technologies have allowed biologists to make incredible advances
in understanding biological systems. As experience grows, researchers increasingly …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

The cortical representations of the hand in area 3b in adult owl monkeys were defined with
use of microelectrode mapping techniques 2–8 months after surgical amputation of digit 3, or …

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 DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…

Clinical adoption of human genome sequencing requires methods that output genotypes
with known accuracy at millions or billions of positions across a genome. Because of …

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

We direct your readers' attention to the principles and guidelines (Supplementary Guidelines)
developed by the Next-generation Sequencing: Standardization of Clinical Testing (Nex-…

The Genome in a Bottle Consortium, hosted by the National Institute of Standards and
Technology (NIST) is creating reference materials and data for human genome sequencing, as …