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whole-genome sequencing

The project, the first under a partnership between the university and Illumina announced last year, will apply whole-genome sequencing to challenging cancers types.

The deal provides whole-genome sequencing for patients with rare diseases or cancer and could make sequencing part of the standard of care for NHS England.

The clearances pave the way to clinical applications for three of MGI's instruments but the BGI subsidiary faces legal challenges from Illumina in Europe and the US.

The legislation is intended to allow states to conduct whole-genome sequencing on children on Medicaid who have a disease with a suspected genetic cause.

The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.

The British team believes its classifier can identify men who will need treatment within five years,  minimizing the need of repeated checkups for low-risk patients.

During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.   

With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.

Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.

The assay monitors mutations across a patient's genome and matches them to mutations found in a patient's resected tumor and in DNA in the bloodstream.

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