Genomics England publishes results of its annotation assessment

Genomics England, the company leading the UK’s 100,000 Genomes Project, has released details of those companies that distinguished themselves in its annotation assessment exercise. Genomics England is committed to kick-starting the development of a UK genomics industry and this assessment exercise is part of that aim, as well as to evaluate and select potential service providers for the 100,000 Genomes Project.

Genomics England sent an Annotation Assessment Questionnaire to twenty eight participants together with the BAM and Variant Call Format files in respect of ten cancer/normal samples and fifteen rare disease trio samples in February 2014. Sixteen clinical interpretation reports were received in the field of rare disease and nineteen reports in the field of cancer in March. Twelve participants also provided refined alignments and variant reports.

A team led by Professor Tim Hubbard of King’s College, London, and Head of Bioinformatics at Genomics England, then evaluated the responses.

As a result, the following companies have been selected to move to the next stage of evaluation as potential service providers for the variant annotation and clinical interpretation element of the programme: Congenica, Diploid, Nantomics, Genomics Ltd, Illumina, Qiagen, Lockheed Martin, Nextcode, Omicia and Personalis.

It is anticipated that there will be further opportunities for other providers to be selected as the 100,000 Genomes Project progresses, as the capabilities of genomics service providers will be assessed regularly.

Prof Tim Hubbard, Head of Bioinformatics at Genomics England, commented, “Genomics England is committed to stimulating innovation in genome interpretation. This first assessment was extremely useful in determining the current capabilities of potential service providers. We anticipate continuous improvements in interpretation ability and will therefore be evaluating new and revised services throughout the 100,000 Genomes Project.”

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