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

We present single-molecule, real-time sequencing data obtained from a DNA polymerase
performing uninterrupted template-directed synthesis using four distinguishable fluorescently …

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

We present a hierarchical genome-assembly process (HGAP) for high-quality de novo microbial
genome assemblies using only a single, long-insert shotgun DNA library in conjunction …

… base modifications have been described to affect specific functions, such as uracil for important
roles in innate and adaptive immunology [21], β-d-glucopyranosyloxymethyluracil (base J…

We describe the direct detection of DNA methylation, without bisulfite conversion, through
single-molecule, real-time (SMRT) sequencing. In SMRT sequencing, DNA polymerases …

Optical approaches for observing the dynamics of single molecules have required pico- to
nanomolar concentrations of fluorophore in order to isolate individual molecules. However, …

The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …

The incidence of preterm birth exceeds 10% worldwide. There are significant disparities in
the frequency of preterm birth among populations within countries, and women of African …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …