27 August 2013
More broadly, the study addresses a potential approach to the problem of rare genetic variants of unknown medical significance, an issue likely to grow alongside the development of genomic medicine and clinical whole genome sequencing. It would seem that linking high-quality genetic and phenotypic data can provide a resource for research to distinguish neutral and pathogenic mutations within the same gene. This is one potential benefit for patients, families and future generations in the area of rare diseases that could be realised by the UK 100,000 Genomes Project being led by Genomics England – provided that robust and appropriate systems are put in place for recording, storing and interrogating linked genomic and clinical patient data.
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