News & Papers

Further reading on sequins, including scientific publications, news coverage etc.

Scientific publications.

Research | 31 August 2018 |  BioRxiv.

Chiral DNA sequences as commutable reference standards for clinical genomics.

by Ira Deveson et. al.

Chirality is a geometric property describing any object that is inequivalent to a mirror image of itself. Due to its 5-3 directionality, a DNA sequence is distinct from a mirrored sequence arranged in reverse nucleotide order, and is therefore chiral. A given sequence and its opposing chiral partner sequence share many properties, such as nucleotide composition and sequence entropy. Here we demonstrate that chiral DNA sequence pairs also perform equivalently during molecular and bioinformatic techniques…

Research | 6 August 2018 |  Nature Communications.

Synthetic microbe communities provide internal reference standards for metagenome sequencing and analysis.

by Simon Hardwick et. al.,

The complexity of microbial communities, combined with technical biases in next-generation sequencing, pose a challenge to metagenomic analysis. Here, we develop a set of internal DNA standards, termed “sequins” (sequencing spike-ins), that together constitute a synthetic community of artificial microbial genomes. Sequins are added to environmental DNA samples prior to library preparation, and undergo concurrent sequencing with the accompanying sample…

Review | 19 June 2017 |  Nature Reviews Genetics.

Reference standards for next-generation sequencing.

by Simon Hardwick et. al.,

Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is being readily applied for the diagnosis of disease-associated genetic features. However, the interpretation of NGS data remains challenging owing to the size and complexity of the genome and the technical errors that are introduced during sample preparation, sequencing and analysis. These errors can be understood and mitigated through the use of reference standards — well-characterized genetic materials or synthetic spike-in controls ….

Research | 1 June 2018 |  Bioinformatics.

Anaquin: a software toolkit for the analysis of spike-in controls for next generation sequencing

by Ted Wong et. al.

Spike-in controls are synthetic nucleic-acid sequences that are added to a user’s sample and constitute internal standards for subsequent steps in the next generation sequencing workflow. The Anaquin software toolkit can be used to analyze the performance of spike-in controls at multiple steps during RNA sequencing or genome sequencing analysis, providing useful diagnostic statistics, data visualization and sample normalization…

Research | 8 August 2016 |  Nature Methods.

Spliced synthetic genes as internal controls in RNA sequencing experiments

by Simon Hardwick et. al.

RNA sequencing (RNA-seq) can be used to assemble spliced isoforms, quantify expressed genes and provide a global profile of the transcriptome. However, the size and diversity of the transcriptome, the wide dynamic range in gene expression and inherent technical biases confound RNA-seq analysis. We have developed a set of spike-in RNA standards, termed ‘sequins’ (sequencing spike-ins), that represent full-length spliced mRNA isoforms…

Research | 8 August 2016 |  Nature Methods.

Representing genetic variation with synthetic DNA standards.

by Ira Deveson et. al.

The identification of genetic variation with next-generation sequencing is confounded by the complexity of the human genome sequence and by biases that arise during library preparation, sequencing and analysis. We have developed a set of synthetic DNA standards, termed ‘sequins’, that emulate human genetic features and constitute qualitative and quantitative spike-in controls for genome sequencing…

News & press.

News | 20 December 2018 |  Nature Methods.

Controls let genomics experimenters drive with a dashboard

If your car lacks a dashboard, you have no way of knowing when gas is about to run out or if you are traveling above the speed limit. Without controls, experimenters are driving without a dashboard, says Marc Salit, who’s long been involved in standards development…

News | 30 December 2016 |  Wired.

Best New Words of 2016

sequin – A snippet of synthetic, mirror-image DNA dropped into a genetic sample before sequencing. Genetic tests are error-prone, and sequins (short for sequencing spike-ins) provide a benchmark that labs can use to verify the accuracy of results—a vital step for personalized medicine.

 

News | 8 August 2016 |  GenomeWeb.

Garvan Team Uses Synthetic DNA to Create Spike-In Method for NGS Assay Validation

In an effort to develop a method that can assess the performance and reliability of an assay, researchers from the Garvan Institute of Medical Research in Sydney, Australia have developed a technique that uses synthetic DNA spike-ins that can quantify an assay’s ability to detect specific variations…