An international group of leading scientists has published, in the journal Genome Medicine, recommendations for updating existing standards for rare disease diagnosis.
The work was led by scientists at Genomics England, the University of Manchester and the University of Oxford, with expertise in clinical whole genome sequencing (WGS). Data was taken from the 100,000 Genomes Project participants, and the recommendations were drafted by a panel of nine clinical and research scientists in the UK in order to enable clinicians and researchers to take better advantage of the full range of variation in WGS data.
For more information read the press release from Genomics England.