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Genomics England Adopts Illumina’s BaseSpace Variant Interpreter for Cancer


Illumina, Inc. (NASDAQ:ILMN) and Genomics England announced today that Illumina is the primary variant interpretation and reporting software vendor for tumor and matched normal samples characterized as part of the 100,000 Genomes Project.

In a little over a year since Illumina announced the Bioinformatics and Clinical Interpretation Partnership with Genomics England, the partnership has now set unified standards for data and analysis practices using BaseSpace Variant Interpreter software for tumor variant review.

In the coming months, Genomics England will be expanding the use of BaseSpace Variant Interpreter for cancer to all NHS Genomic Medicine Centers, and Illumina will be removing the ‘Beta’ status from its software offering, and formally launching it for public release later this summer.

"We are very pleased to be enabling cutting-edge variant interpretation and precision genomics for the NHS in cancer,” said Garret Hampton, EVP Clinical Genomics Group at Illumina. “This is a major milestone for our population sequencing efforts, and demonstrates Illumina's commitment to developing software that delivers on the promise of transformative healthcare through sequencing."

Sir John Chisholm, Executive Chair at Genomics England said: “We believe that whole genome sequencing will underpin the future of cancer care – providing greater understanding of the disease and a fuller prognostic picture for patients. Illumina’s variant interpretation and reporting software will enable us to deliver better insights from the 100,000 Genomes Project. We are delighted to be working with Illumina alongside our other delivery partners to drive forward genomic research and support our ambitions of transforming NHS patient care.”

BaseSpace Variant Interpreter (Beta) enables researchers to perform rapid annotation, filtering, and interpretation of genomic data. Its user-friendly, efficient variant-to-report workflow helps summarize findings into structured reports within a software framework focused on data security, compliance, and operational efficiency.

About Illumina, Inc.

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and follow @illumina.

Forward-Looking Statements

This release contains forward-looking statements that involve risks and uncertainties. Examples of forward-looking statements include, but are not limited to, statements we make regarding the expected availability dates for new products and services and FDA submission dates and intentions for certain products and services. Important factors that could cause actual results to differ materially from those in any forward-looking statements include challenges inherent in developing, manufacturing, and launching new products and services, and the other factors that are detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We do not intend to update any forward-looking statements after the date of this release.

About Genomics England

Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients and their families.

Genomics England has four main aims:

  • to bring benefit to patients
  • to create an ethical and transparent programme based on consent
  • to enable new scientific discovery and medical insights
  • to kickstart the development of a UK genomics industry

The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. For more information visit

Contact information

Illumina, Inc.
Rebecca Chambers, 858-255-5243
Illumina, Inc.
David Robertson, +44 (0)1223 824909
Europe, Middle East, and Africa
Illumina, Inc.
Jen Carroll, 858-882-6822
Genomics England
Katrina Nevin-Ridley, 0207 882 6493
Director of Communications
@GenomicsEngland #genomes100k

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