Incorporating splicing and other clues from muscle transcripts, researchers reached diagnoses in cases that were inconclusive after sequencing alone.
The collaborators are each providing funding and samples, and plan to study about 100 patients with a subset of Castleman disease to identify biomarkers.
Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.
The Columbus Dispatch tells the story of two sisters who've inherited a rare genetic illness.
Researchers describe a rare genetic disorder that leads to deafness, blindness, and albinism, that's more likely among children of deaf parents, the Washington Post reports.
Sequencing is enabling the roots of some rare diseases to be determined, the Financial Times reports.
Congenica will use the proceeds to establish its presence in the US and China, where it will court not only clinical genetics labs, but specialists, academics, biotech, and pharma.
The company will use the proceeds from the round to invest in sales and marketing efforts for its Sapientia clinical genome analysis platform, as well as for R&D.
The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.
The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.
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.