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Scientific publications on sequins.

Research | 17 July 2020 |  Nature Communications.

Universal and independent synthetic DNA ladder for the quantitative measurement of genomic features.

by Reis et. al.

Standard units of measurement are required for the quantitative description of the genome. We have developed a synthetic, single-molecule DNA ladder that defines a metric unit for measuring DNA abundance within a next-generation sequencing library. This ladder can be used with any organism, application or technology, and can provide universal benchmarking of quantitative performance, and superior normalisation between samples.

Protocol | 19 June 2019 |  Nature Protocols.

Use of synthetic DNA spike-in controls (sequins) for human genome sequencing.

by James Blackburn et. al.

This step-by-step protocol explains the use of sequins for both whole-genome and targeted sequencing of the human genome. This includes instructions regarding the dilution and addition of sequins to human DNA samples, followed by the bioinformatic steps required to separate sequin- and sample-derived sequencing reads and to evaluate the diagnostic performance of the assay. These practical guidelines are accompanied by a broader discussion of the conceptual and statistical principles that underpin the design of sequin standards.

Research | 21 March 2019 |  Nature Communications.

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 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…