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The Journal of Medical Genetics (JMG) is now in its 55th year of publication. In that time, both medical genetics and scientific publishing have changed almost beyond recognition. In 1964, it would have seemed inconceivable that when there was a pressing need to reach a diagnosis, a patient could have almost all of their expressed genes sequenced and analysed in the space of a few days.1
The advent of exome and whole-genome sequencing has changed medical genetics. Research studies such as Deciphering developmental disorders 2 3 have shown the potential of genomics in the clinic. Large-scale initiatives such as the 100 000 Genomes Project will help transform medical …
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