NGS data analysis

Convert sequencing data to meaningful insights with confidence and ease.

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Two researchers looking at NGS data analysis results on laptop computers in an office

Intuitive, integrated NGS data analysis software for complex workflows

Roche’s comprehensive portfolio of sequencing solutions enables you to generate high-quality sequencing data from even the most challenging sample types. Nevertheless, the analysis and interpretation/reporting of complex data sets against a tsunami of evolving research and evidence remains a major obstacle in realizing the promise of NGS in precision medicine. 

For this reason, Roche offers integrated, user-friendly NGS data analysis software for converting raw sequencing data into features such as QC metrics and variant calls (secondary analysis).

  • If you are performing comprehensive genomic profiling (CGP) with an AVENIO Tumor Tissue CGP Kit, push-button secondary analysis is performed with the carefully curated, cloud-based FoundationOne® Analysis Platform1
  • For AVENIO ctDNA Analysis Kits V2 and AVENIO Tumor Tissue Analysis Kits V2, the AVENIO Oncology Analysis Software offers simple, efficient, and accurate sequencing data analysis2
  • Seamless, cloud-based secondary analysis and visualization of target enrichment data generated with a KAPA custom or catalog panel is offered through third-party partnerships, such as Roche’s collaboration with DNAnexus®

Once high-confidence variant calls have been generated, we make it easy to extract deep biological meaning, identify significant findings, and present these in a comprehensible way with the navify® Mutation Profiler or a tertiary analysis platform of your choice. 

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The navify® Mutation Profiler is a software product intended to be used for research use only as a tool in the interpretation of genomic alterations and signatures generated from sequencing DNA isolated from FFPE tumor tissue and liquid biopsy specimens from solid or hematologic malignant neoplasms.The software provides tumor mutation profiling for use in the research setting by annotating somatic alterations and mutational signatures with information curated from published literature, databases, professional medical guidelines, drug labels, and clinical trials. This information is reported with a tiered classification based on professional guidelines. The software also enables the user to implement cut-off thresholds for genomic signatures, provides drug and prognostic information, and generates a report.The software is not intended as a diagnostic tool or to be used as professional healthcare advice. Each user is responsible for ensuring compliance with applicable international, national, and local clinical laboratory regulations and other specific accreditation requirements.Genomic annotations from navify® Mutation Profiler are not prescriptive or conclusive for labeled use of any specific therapeutic product.ClassificationFor Research Use Only. Not for use in diagnostic procedures.
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Benefits of NGS data analysis solutions from Roche

Convenient

Effortless NGS data analysis with intuitive, integrated software

With our broad portfolio of NGS data analysis software, Roche provides convenient, end-to-end NGS workflows. 

  • AVENIO Tumor Tissue CGP and oncology kits include access to integrated secondary analysis software1 
  • AVENIO Tumor Tissue CGP and AVENIO ctDNA and Tumor Tissue Analysis Kits include access to integrated secondary analysis software1,2
  • Outputs from secondary analysis software are fully compatible with the navify Mutation Profiler and other tertiary analysis platforms2
Comprehensive

Obtain comprehensive genomic insights across applications

Our NGS data analysis software:

  • Identifies all four major types of genetic variants, including single-nucleotide variants (SNVs), indels, copy number alterations, and rearrangements (fusions) for AVENIO Tumor Tissue CGP and oncology assays,1,2 as well as KAPA HyperCap and KAPA HyperPETE workflows 
  • Calculates complex genomic signatures, such as tumor mutation burden (TMB), microsatellite instability (MSI), genomic loss of heterozygosity (LOH), and homologous recombination deficiency (HRD)1
  • Returns variant calls in all captured regions, not just in pre-defined sets of hotspots1
Reliable

Designed to deliver high-confidence variant calls and meaningful insights

Whether developed in-house (with proprietary algorithms and error-suppression strategies) or in collaboration with external partners (using open-source tools and pipelines), our NGS analysis solutions are tailored to our sample preparation chemistries to ensure reliable and accurate results.

  • Key sequencing QC metrics are considered in the calling and filtering of variants to ensure high-confidence results1
  • The FoundationOne® Analysis Platform and navify Mutation Profiler offer evidence-based secondary and tertiary analysis based on highly curated, continuously evolving databases1
  • Five leading oncology databases, a curated loci of interest list, and a customizable annotation database are integrated into the AVENIO Oncology Analysis Software2
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KAPA UDI Adapters

KAPA Universal Adapter

 

  

KAPA Universal Adapter

KAPA Universal UMI Adapter

Number of UDIs (unique dual-indexes)

 96

384

Number of 8-nt non-redundant P5 + P7 barcodes

 96 + 96 384 + 384

Barcodes identical to those used in adapters supplied by Illumina

 No(1) No(1)

Recommended for all Illumina instruments with patterned or non-patterned flow cells

 Yes Yes

PCR-free library preparation

 Yes No

Molecular barcoded

 No No Yes
Suitable for:

KAPA HyperPrep & HyperPlus

KAPA EvoPlus

KAPA RNA HyperPrep

KAPA HyperCap


Validated

Compatible

Validated

Compatible(2)

 

Compatible

Compatible

Validated

Validated

 

Compatible

N/A

Compatible

Validated

Compatible with KAPA Universal Enhancing Oligos

 Yes Yes

Adapter formulation

Full-length, ready-to-use, 15 μM
4 reactions/adapter(3)

Truncated, ready-to-use, 15 μM
1 reaction/adapter(3)

Truncated, ready-to-use, 33 μM
1 reaction/adapter(3)

Kit configuration

Hard-shell 96-well plate with automation-friendly labelling, overage and replacement seals(4)

Adapter tube and hard-shell 96-well primer mixes plates with automation-friendly labeling, overage and replacement seals(4)

KAPA Adapter Dilution Buffer

Yes (25 mL per kit)

 No

(1)The sets of 192 and 768 barcode sequences used in KAPA UDI Adapters and KAPA UDI Primer Mixes (respectively) are exclusive to Roche and different between the two sets.

(2) Theoretically possible but not fully tested.

(3) This is sufficient for four or one library preps (KAPA UDI Adapter plate or KAPA UDI Primer Mixes plate, respectively) with the KAPA HyperPrep or KAPA HyperPlus Kit if no adapter dilution is required. Generous overfill supports use on automated liquid handling systems.

(4)KAPA UDI Primer Mixes and KAPA Adapter plates are shipped with peelable seals. Replacement seals (three per plate) are peelable and pierceable. 

* KAPA Universal Adapters, KAPA Universal UMI Adapters and KAPA UDI Adapters are not compatible with methyl-seq applications.

Brochure: FoundationONE® Analysis Platform + AVENIO Connect Software (RUO)

Discover how to gain access to clear information and results with our secondary analysis and workflow manager software

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KAPA products are for Research Use Only, not for use in diagnostics procedures.

AVENIO products are for Research Use Only. Not for use in diagnostic procedures.

FoundationOne® Analysis Platform is for Research Use Only. Not for use in diagnostic procedures.

navify® Mutation Profiler is For Research Use Only. Not for use in diagnostic procedures when used with the AVENIO Tumor Tissue CGP Kits.

Tertiary analysis with navify® Mutation Profiler is not part of the AVENIO Tumor Tissue CGP Automated Kit and may be purchased as an add on.

References

  1. AVENIO Tumor Tissue CGP Kit V2 - Reagent Instructions for Use v3.0. December 2025.
  2. AVENIO Oncology Analysis Software v2.1. September 2023.