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The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics. The scientists were able to perform a genetic diagnosis in around 20% of 100 cases of patients with intellectual disability (ID) and 50% of the 25 cases of blindness studied. Not only is the exome test cheaper, but results are available more quickly than with Sanger sequencing, they say.To see more details visit, www.medicalnewstoday.com


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