congenital disorders of glycosylation
CRISPR-Cas9 Genome Editing Can Lead to Extensive Chromosome Rearrangements
A study showed that chromothripsis, a mutational process that can lead to congenital disease and cancer, can result from on-target editing with Cas9.
Congenital Glycosylation Disorder Study Finds Mosaicism Confounds Diagnosis by Exome Sequencing
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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 c
The sequencing will be done on ABI's SOLiD, and over the next three months Emory plans to add sequencing-based testing for mitochondrial diseases, prostate cancer, hearing loss, cardiomyopathy, and various types of mental retardation.