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Next-generation exome sequencing works in clinical setting

from Medscape Medical News

A practical test of the value of exome sequencing in diagnosing children with unexplained intellectual disabilities, developmental delay, and/or congenital anomalies in a clinical setting has yielded very promising results. Of 12 children in the study, investigators found diagnostic mutations in 7. Exome sequencing focuses on the protein-encoding parts of the genome, which include most of the genes behind single-gene disorders. The technology, which uses next-generation sequencing, is increasingly being used to solve diagnostic challenges. more


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