Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders

Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders

Research led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the largest study of its kind to date, published today in Nature Medicine, an international group of researchers led by Queen Mary used new bioinformatics techniques to scan the genetic profiles of 80,000 people to understand the frequency of specific expansions of short repetitive DNA sequences in the general population.

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