Products & Applications

Sequins WGS
Core Control Set

Maximize insights from every sample with Sequins™ internal standards

Sequins WGS
Core Control Set
Sequins WGS
Core Control Set
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Standardizing Whole Genome Sequencing

Whole Genome Sequencing (WGS) has become a powerful tool for identifying disease-causing genetic variants. Given the varied source of samples across multiple laboratories and cohorts, the need to standardize WGS is paramount.

Standardization within and between samples, users, equipment and locations

The use of Sequins controls for standardization mitigates the heterogeneity of samples to enable unprecedented interoperability.

Workflow Monitoring and Optimization

Sequins are subjected to the same technical influences and errors as the samples they are combined with, enabling the evaluation of workflow performance.

Enhanced data
insights

Sequins are uniquely designed to represent specific genomic features for accurate determination of data quality, enhancing the ability to confidently and reliably call variants.
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Most Comprehensive WGS Control Set

The Sequins™ WGS Core Control Set is a comprehensive, easy-to-use, pre-configured control set with built-in redundancy that ensures the integrity of results. Designed against the hg38 reference genome and compatible with hg37, it includes Sequins covering multiple regions in a single tube to be used with PCR-free library preparation methods for research use. Variant classes include difficult genetic variants; germline variants at simple repeats; homopolymers; structural variants; common genetic variants; microsatellites; and mitochondrial DNA.

Variant Class Count Description
Difficult Variants 10 Germline variants at simple repeats:
– Homopolymers (mono-nucleotide) repeats- Di-nucleotide repeats- Tri-nucleotide repeats- Quad-nucleotide repeats

– Low and high %GC regions

Structural Variants 9 Tandem duplications, deletions, and inversions >50bp in size, long tandem repeats
Microsatellites 1 Stable microsatellite sequences
Mitochondrial DNA 4 Reference sequences representing the entire mitochondrial genome
Common genetic variants 58 Representative of general background genetic variation

Plug & Play Simplicity

Sequins are simply ‘spiked-in’ to a sample prior to library preparation and together, progressed through a workflow. Sequins controls can then be distinguished from the native sample in the output library by their synthetic sequence enabling normalization and comparison between samples, runs, laboratories, chemistries, and sequencers.

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01
Spike Sequins into samples

Spike Sequins into samples

02
Prepare library

Prepare library

03
Sequence

Sequence

04
Concatenate reference genome with Sequins decoy chromosome

Concatenate reference genome with Sequins decoy chromosome

05
Align FASTQ files to concatenated reference genome

Align FASTQ files to concatenated reference genome

06
Call variants

Call variants

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