Batten disease

The partners are deciding whether to run the multiplex test on a microarray or a sequencing platform. Factors in the decision include the complexity of the test and the technical feasibility of multiplexed, targeted resequencing.

The foundation hopes to have a screening test for 75 rare diseases on the market in the fall.

A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.