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: convergent evolution in bird hemoglobin, and more.

The Wall Street Journal speaks with patients affected by questionable test results from Theranos.

Researchers link variants in TACR3 to hot flashes during menopause, Live Science reports.

Kuwait says it will alter its law requiring citizens and visitors to provide DNA samples, New Scientist reports.