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DNA sequence analysis software aids clinical practice

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Software developed by Dr Gerton Lunter and colleagues from the Wellcome Trust Centre for Human Genetics at the University of Oxford is enabling the NHS and Genomics England, coordinators of the UK’s 100,000 Genomes Project, to more effectively utilise high-throughput sequencing data.

BBSRC funding allowed the researchers to develop software to carry out the vital first steps required to process DNA sequencing data ten times faster – and more accurately – than existing software tools.

Data breakout

£626k Value of BBSRC Responsive Mode grant that funded the research
$20M Investment in company Genomics plc to support data analysis from the 100,000 Genomes project. The company now employs 40 people and is working with major pharmaceutical companies
24 hours Time it now takes to sequence the entire human genome

The software is now being used by researchers at the Institute of Cancer Research and The Royal Marsden NHS Foundation Trust to identify gene variants that could predispose patients to cancer. Because the process is now much quicker and cheaper, the researchers can examine nearly 100 genes in all of the patients they see, rather than just two genes in a handful of patients.

Researchers from NHS Blood and Transplant are also using the software to speed up the selection and matching of stem cell donors and recipients, improving the outcomes of these transplants.

The project is also developing algorithms to ensure the software can be used with the new ‘third generation’ sequencing technologies currently being developed by companies such as Oxford Nanopore Technologies Oxford Nanopore Technologies: super-fast desktop sequencing.

Read the full impact evidence report:

DNA sequence analysis software aids clinical practice (PDF 953KB)

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