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: metagenomic-based technique for determining protein structure, and more.

An academic laments the rise of narcissism in the sciences, the Guardian reports.

Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.

The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.