congenital disorders of glycosylation | GenomeWeb

congenital disorders of glycosylation

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.

In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.