Illumina, Inc. 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.