Genome sequencing has become a principal tool in biomedical research and clinical diagnostics. However, numerous experimental and bioinformatic variables influence the sensitivity and precision of variant detection.
We have developed a set of synthetic spike-in standards (termed ‘sequins’) that emulate features of a human genome, such as sites of genetic variation, and constitute internal controls for genome sequencing. Sequins can be used as qualitative controls to assess multiple stages of a genome sequencing workflow, inform bioinformatic analyses and establish an internal reference scale against which quantitative features of genome biology can be measured.
Please see our recent Nature Methods publication for a full description of sequins for DNA sequencing.
This thread provides a forum for current and future sequin users to discuss any aspect of this emerging technology.
You can also watch this short video, which provides an introduction to sequins or visit http://www.sequin.xyz/ for more details.
Cheers
Ira Deveson (on behalf of the Sequin team)
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Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.
We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing... -
The immune system’s power comes from its genetic diversity, allowing myriad threats to be neutralized through first recognizing foreign antigens. That diversity is also what makes the immune system so difficult to study. Recent advances in sequencing technology and computational biology, however, are giving researchers new tools to understand immune responses and immune-related diseases in greater detail.
This convergence of genetics, immunology, and computation...09-01-2026, 05:41 AM
