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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The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...-
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Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...-
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04-04-2024, 04:25 PM -
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