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.

Biomedical research projects are generating a ton of data that still needs to be analyzed, NPR reports.

Theranos is retiring some of its board members, including Henry Kissinger and George Shultz, Business Insider reports.

The heads of 29 scientific societies and some 2,300 researchers call on President-elect Donald Trump to rely on and support science in two separate letters.

In Science this week: genetically modified flu virus could be key to new live vaccines, and more.