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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