Underrepresentation of nonwhite ethnic groups in scientific research and clinical trials has been a disturbing trend. One particularly troubling aspect is that human genomic databases are heavily ...skewed toward people of European descent. If left unaddressed, this inherent bias will continue to contribute to uneven success rates in so-called precision medicine. The problem stems from the underlying structure of science. In the early days of genomics, funding for sequencing projects was often highest among mostly white countries, so those populations are better represented in public databases.
Summary form only given. Zero-mode waveguides enable the observation of which fluorescent nucleotide analog is being added to the double stranded product in the active site of the enzyme while ...excluding signal from freely diffusing fluorescent species. The effectiveness of zero-mode waveguides is demonstrated by real-time observation of single molecules of DNA polymerase immobilized inside zero-mode waveguides, using micromolar concentrations of fluorescently labeled nucleotide analogs.
The availability of inexpensive, massively parallel short-read sequencers shifted the focus of high-quality reference genome production to resequencing and draft genome assemblies, emphasizing ...quantity over quality. Long-read sequencing, however, now makes it possible to achieve both quantity and quality. Reference genomes were originally deemed a necessary tool to study an organism or family of organisms, but many scientists held that the production of a single reference assembly would be sufficient for any given species. Here, Boles and Korlach discuss long reads and the return of reference genomes.
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