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CAT #: 14160029

NPM1 MRD v1.1.1 Software for Use on Illumina® MiSeqTM Platform

Product Use

The NPM1 MRD v1.1.1 Software  package provides automated bioinformatic analyses of raw FASTQ files generated by the Illumina® MiSeqTM, when used with the NPM1 MRD Assay. The Dockerized Linux-based software is built for portability, flexibility and can be easily integrated into down-stream reporting systems and/or LIMS.

Product Details

  • Description

    The NPM1 MRD Assay for use with the Illumina® MiSeqTM platform was designed to produce sequencing data that can be analyzed using the NPM1 MRD v1.1.1 Software package provided on a USB. This USB includes detailed README files with instructions for installation and use of the software package (using either the command-line or REST-API execution method), as well as a MiSeqTM sample sheet template.

    The MiSeqTM sequencing run of samples prepared with the NPM1 MRD Assay outputs FASTQ files that can be easily processed by the NPM1 MRD Software v1.1.1 to provide NPM1 insertion variant calls. Individual sample and aggregate sample data output is generated in the form of TSV (tab-separated value) files. This software package allows for the identification and tracking of insertion variant types ‘A’, ‘B’, ‘D’ or ‘Other’ in the  nucleophosmin (NPM1) gene.

    This software reports results as:

    • Positive
    • Not Detected
    • Undetermined

    Variant Read Frequency (VRF) reported for Positive results. Confidence for detection of ‘A’, ‘B’, ‘D’, or ‘Other’ with a Variant Allele Frequency (VAF) of 5×10-5  and minimum VAF detectable with >95% confidence reported for Not Detected results. Indicates insufficient read depth for a ‘Not Detected’ call at a VAF of 5×10-5 for Undetermined results.

Disclaimer

This product is for Research Use Only; not for use in diagnostic procedures.

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