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Genomics England to Adopt Illumina's BaseSpace Variant Interpreter for Cancer Samples

Genomics England plans to use Illumina's BaseSpace Variant Interpreter for the tumor and matched normal samples that it will characterize as part of the 100,000 Genomes Project.

Illumina and Genomics England forged a bioinformatics partnership last year, under which the two agreed to develop standards for clinical data analysis and interpretation. In a statement today, Illumina said that those standards for tumor variant review would be encompassed in the BaseSpace Variant Interpreter.

Over the next few months, Genomics England also plans to expand the use of the BaseSpace Variant Interpreter for cancer to all National Health System Genomic Medicine Centers in the UK. In addition, Illumina plans to fully launch the BaseSpace Variant Interpreter to the broader public later this summer. Previously, the software tool was a beta release.

"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," Garret Hampton, executive vice president of the Clinical Genomics Group at Illumina, said in a statement.

Sir John Chisholm, executive chair at Genomics England, added that the software would enable the researchers to deliver better insights from the 100,000 Genomes Project.

"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," he said. 

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