Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

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

Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Wildlife reservoirs of broad-host-range viruses have the potential to enable evolution of viral
variants that can emerge to infect humans. In North America, there is phylogenomic …

The spillovers of betacoronaviruses in humans and the emergence of severe acute
respiratory syndrome coronavirus 2 (SARS-CoV-2) variants highlight the need for broad …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Genetic diversity is key to crop improvement. Owing to pervasive genomic structural
variation, a single reference genome assembly cannot capture the full complement of …

Chronic obstructive pulmonary disease (COPD) is the third commonest cause of death
globally, and manifests as a progressive inflammatory lung disease with no curative …

Nanopore sequencers can be used to selectively sequence certain DNA molecules in a pool
by reversing the voltage across individual nanopores to reject specific sequences, enabling …