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Algorithm to provide certainty with diagnosis of disorders

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Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, claim Oxford University researchers.

The researchers have developed a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down’s syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.

Using computer vision and machine learning, the algorithm learns what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.

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The researchers report their findings in the journal eLife. The study was funded by the Medical Research Council (MRC), the Wellcome Trust, the National Institute for Health Research, Oxford Biomedical Research Centre, and the European Research Council.

This image shows an average face taking on the average facial features of eight rare genetic disorders that have been built from a growing bank of photographs of people diagnosed with different syndromes. Oxford University scientists have developed a comp
Source: Christoffer Nell
 
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