Medical Xpress November 7, 2022
Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis.
However, the interpretation of this data can be extremely challenging and many people with complex, rare genetic diseases still do not receive a molecular answer to the cause of their problems.
In the study, published in Nature Communications, researchers at The London Mitochondrial Center at UCL Queen Square Institute of Neurology and UCL Great Ormond Street Institute of Child Health...
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