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.

Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.