Congenital Glycosylation Disorder Study Finds Mosaicism Confounds Diagnosis by Exome Sequencing | GenomeWeb

In attempting to diagnose a set of congenital disorders of glycosylation, a team from Sanford Burnham Medical Research Institute has highlighted some important pitfalls of using sequencing results to inform clinical diagnosis, specifically, the potential of somatic mosaicism to confound whole-exome and other broad sequencing techniques.

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Mar
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