High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …

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

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 …

Genetic Diagnoses in Critical Care Because a genetic diagnosis can guide clinical
management and improve prognosis in critically ill patients, much effort has gone into …

Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …

The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …

Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …

Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the
time required for sequencing and analysis has been a barrier to its use in acutely ill patients …

Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …

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