At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.
The researchers from both studies said that their approaches will be useful for studying not only Mendelian diseases, but also more complex diseases.
Using Complete Genomics' human genome sequencing service, an American research team has identified mutations behind two inherited conditions within one family.
Researchers from the University of Washington and elsewhere have published their work on the use of exome sequencing to identify the gene affected in a rare Mendelian disease called Miller syndrome.
For Complete Genomics, which provided the sequencing data for ISB's study, the project provides the first independent validation of its sequencing service by an early-access customer.
Mary Beckerle has been removed as director of the Huntsman Cancer Institute in what one researcher refers to as a "coup," ScienceInsider reports.
Bill Gates tells the Telegraph that bioterrorism is a serious risk.
The March for Science is to take place tomorrow, and supporters are tapping their creative energies to create placards to carry.
CBS News reports that the White House Science Fair is to continue under President Donald Trump.