SureSeq™ Interpret Software

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SureSeq Interpret is a powerful and easy-to-use next generation sequencing analysis solution. Optimised for use with SureSeq NGS panels for confident annotation and reporting of low frequency variants.

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Overview

Effortless translation of NGS data into meaningful results

SureSeq Interpret is a powerful and easy-to-use next generation sequencing analysis solution. Sequencing data can be quickly processed to deliver accurate identification of single nucleotide variants (SNVs) and Indels as well as structural variants such as copy number variants (CNVs) and internal tandem duplications (ITDs). Coupled with a comprehensive and powerful filtering framework, the software delivers accurate mutation calling with 100% sensitivity and 99.9% specificity at >1% variant allele frequency (VAF)*. It is designed to work with Oxford Gene Technology’s (OGT) extensive range of SureSeq NGS panels and offers flexible accessibility to analyse your data whether through a stand-alone computer, laboratory server or another web enabled device.

SureSeq Interpret offers:

  • Extensive customisation options—easily customise variant and batch reports and database links to meet the exact needs of your laboratory
  • Comprehensive range of filtering options—standardise your analysis workflow and overlay bespoke variant filtering to meet your analytical criteria
  • Security and control—log and track user activity and standardise analysis protocols through multiple access permission levels
  • Powerful analysis capability—optimised for use with SureSeq NGS panels for confident annotation and reporting of low frequency variants

The software provided quick and reliable alignment and variant analysis to interpret results from our core MPN sequencing. Joshua Landreth, Molecular Laboratory Supervisor, Genetic Associates Inc.

Ordering Information

Product Contents Cat. No. Price
SureSeq Interpret Software

Powerful and easy-to-use NGS analysis software.

Complimentary with all SureSeq NGS panels.

500076 Get a quote

References

* Sensitivity and specificity determined using Horizon Discovery OncoSpan and TruQ7 and HapMap (NA12878) standards.

† Computer specification: RAM: min 16Gb, suggested 24Gb; HDD: min 500Gb, suggested 2TB; CPU: 8+ logical cores at 2+ GHz; OS: (Windows 7 or newer), Virtualization (VT-x) needs to be enabled in the BIOS.

Disclaimer

SureSeq: For research use only; not for use in diagnostic procedures.

Details

Extensive customisation options

OGT has extensive experience in providing individualised options through its established plug-in infrastructure. This enables the software to be tailored to your laboratory’s specific requirements, whether it be report formats, user controls or variant annotation. Additional outputs from the pipeline include a range of publicly available data resources for annotation of variants detected, including:

Extensive customisation options

Additional licence-based sources, such as HGMD, can be incorporated on provision of suitable credentials.

In SureSeq Interpret, samples are rapidly processed through customisable protocols and optimised settings in order to generate the variants lists. Users have the option to use the protocols provided with the software or develop their own through the user interface. Personal modifications are available for:

  • Hardware settings
  • Quality metrics
  • Variant calling parameters
  • Variant filtering parameters

Following analysis, results can be viewed in the user-friendly variant browser. Divided into two parts: a tabular display of the calls and Integrative Genomics Viewer (IGV) window (figure1).

Example a low frequency JAK2 V617F SNVFigure 1. Following analysis, all variants are displayed in a table, below which is an IGV window allowing a more detailed review of the data and additional verification. In this example a low frequency JAK2 V617F SNV has been selected and the user is able to view the aligned reads generated by the pipeline.

Report generation is implemented through a templating system. The report template, or templates, are prepared by OGT following discussion with the user. For example, one template could simply provide an overview of user activity in the sequencing analysis while another could provide detailed sample or batch analysis. An example of a batch analysis report is shown below (figure 2) but these are highly customisable and designed to be modified to individual requirements.

Let OGT customise your reportFigure 2. Let OGT customise your report to meet your exact requirements.

Comprehensive range of filtering options

An extensive range of dynamic filtering options are available which can be broad or very specific allowing you to view specific details of the aberration detected:

Extensive range of dynamic filtering optionsSureSeq Interpret provides a sophisticated user interface, which facilitates, through the comprehensive range of filtering options available, the standardisation of your laboratory workflow. These filters can be incorporated into any analysis protocol and are automatically deployed when a particular protocol is selected. This facilitates the building of more complex filter sets to optimise the search and identification of your variants (figure 3 and 4).

Example of SureSeq Interpret filteringFigure 3. An example of the type of filters that can be easily generated for use within SureSeq Interpret.

SureSeq Interpret filtering exists on two levelsFigure 4. Filtering exists on two levels, firstly within the protocol selected for the analysis and secondly, users are able to filter results dynamically within the variants page.

Security and control

A relational database stores all activities conducted using the software, from the loading of the samples to the variant calls made in those samples. This facilitates the logging and tracking of individual user activity for consistent data processing and laboratory monitoring. The database enables implementation of security protocols through multiple access permission levels, allowing users with administrator rights to control all functions of the software and the actions of users based on their roles within the laboratory. Additionally, data stored within the relational database can be easily backed up or ported.

Powerful analysis capability

Used in conjunction with SureSeq NGS panels, SureSeq Interpret facilitates the analysis and visualisation of a wide range of mutation types and structural variants. Complimenting the expert panel design and hybridisation-based approach of SureSeq to deliver unparalleled coverage uniformity, SureSeq Interpret is integral in facilitating the detection of low-frequency variants consistently and with confidence (figure 5 a – e).

Detection of a germline SNV in CEBPAFigure 5a: Detection of a germline SNV in CEBPA, often problematic due to the high GC content of the gene, using a SureSeq myPanel Custom AML panel.

Detection of low frequency somatic variantsFigure 5b: Detection of low frequency somatic variants, as (A) 1% and (B) 9% JAK2 V617F mutations using a SureSeq Myeloid Panel.

Detection of FLT3 ITDs of difference sizesFigure 5c: Detection of FLT3 ITDs of difference sizes, (A) 33 bp, (B) 69 bp, (C) 201 bp, using a SureSeq myPanel Custom AML Panel. Note how OGT’s innovative panel design in conjunction with SureSeq Interpret is able to identify and call ITDs much longer than the sequencing read length of 150 bp.

Detection of a variety of indels of different sizesFigure 5d: Detection of a variety of indels of different sizes. An FFPE type II epithelial ovarian cancer sample was found to have an 18 bp deletion in TP53 (A) at 24% VAF and a 5 bp deletion of in BRCA1 (B) at 28% VAF (using a SureSeq Ovarian Panel). Figure (C) illustrates the detection of a 54 bp deletion in exon 9 of CALR at 47% VAF, using a SureSeq Myeloid Panel.

Detection of a gain of exons 9 14 of the LDLR geneFigure 5e: Detection of a gain of exons 9-14 of the LDLR gene, confirmed by MLPA, using a SureSeq myPanel custom Familial Hypercholesterolemia (FH) panel.

Ordering Information

Product Contents Cat. No. Price
SureSeq Interpret Software

Powerful and easy-to-use NGS analysis software.

Complimentary with all SureSeq NGS panels.

500076 Get a quote

 

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References

‡ Helga Thorvaldsdóttir, James T. Robinson, Jill P. Mesirov. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Briefings in Bioinformatics 14, 178-192 (2013).

Disclaimer

SureSeq: For research use only; not for use in diagnostic procedures.

Resources

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