Large European study underlines power of genomic sequencing to diagnose diseases
A new study further validates the power of genome sequencing to pinpoint the roots of rare diseases.
LONDON — Using genome sequencing greatly expanded the number of diagnoses researchers could provide for children with developmental disorders from thousands of families across the United Kingdom and Ireland, researchers reported in a new study Wednesday.
The study, published in the New England Journal of Medicine, focused on children with severe developmental disorders who hadn’t received diagnoses through other standard methods. It further validates the power of genome sequencing to pinpoint the roots of rare diseases.
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