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.

Researchers find that a personalized medicine approach could help people who experience pain while taking statins, New Scientist reports.

US National Science Foundation is continuing its responsible research conduct training policy despite its flaws, ScienceInsider reports.

A CRISPR-themed meeting explored how the tool could and should be used, Wired reports.

In Science this week: database of proteins' effects on cancer, targeted error correction sequencing, and more.