The company shared early evidence of the potential of its approach to improve newborn screening for immune disorders, and to offer new tools for other areas like HIV monitoring.
Using the method, the researchers predicted the effects of over 140 million mutations in different tissues and identified mutations possibly associated with increased risk of several immune diseases.
Researchers provided genetic diagnoses for about 68 percent of their primary antibody deficiency cohort, which altered clinical management in about half of them.
Using a mass cytometry method called EpiTOF, researchers profiled histone modifications and variants in a range of immune cell types across individuals of different ages.
In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.
NanoString Technologies this week provided investors with a mixed bag of news as it released its second quarter earnings and financial outlook for the rest of the year.
A curation working group established a framework that considers the nature and strength of the available evidence when evaluating gene-disease associations.
The collaborators are each providing funding and samples, and plan to study about 100 patients with a subset of Castleman disease to identify biomarkers.
NIH researchers got tantalizingly close to long-term engraftment at levels that could provide a clinical benefit in gene therapy applications.
With tens of thousands of immune cell measurements for almost 500 individuals, researchers saw enhanced genetic influence over some adaptive immune traits.
The Centers for Disease Control and Prevention estimates more people get sick and die from drug-resistant germs than previously thought, the Washington Post reports.
According to the Associated Press, three universities and a healthcare institution are sharing a gift of $1 billion.
New rules seek to limit the type of scientific and medical research that can be used to guide public health regulations, the New York Times reports.
In Nature this week: FreeHi-C approach simulates Hi-C data from interacting genome fragments, and more.