Researchers found that about 17 percent of sporadic amyotrophic lateral sclerosis patients harbor at least one deleterious rare variant or repeat expansion.
The tool has been applied to determine the pathogenic cause of hemorrhagic fever, and is powering a new test for respiratory disease pathogens.
Mary Beckerle has returned as director of the Huntsman Cancer Institute, according to ScienceInsider.
Mary Beckerle has been removed as director of the Huntsman Cancer Institute in what one researcher refers to as a "coup," ScienceInsider reports.
A Brown University-led team demonstrated the utility of its "massively parallel splicing assay," or MaPSy, assay by profiling splice effects for thousands of mutations.
Placental examination, fetal autopsy, and genetic testing are among the most useful tests when searching for stillbirth cause, the New York Times reports.
The funding will, in part, support efforts to expand the project's catalog of functional elements and understand their roles in different contexts.
Researchers incorporated deep phenotyping and gene expression profiles to tease apart gene networks that are altered in women with polycystic ovarian syndrome.
Arti Rai and Colleen Chien are studying whether the Supreme Court's decisions in Mayo v Prometheus and Bilski v Kappos have had a negative impact on diagnostics innovation.
Utah's Dana Carroll, UC Berkeley's Jacob Corn, and their colleagues replaced the sickle cell disease mutation with the wild-type gene via HDR.
The president of France's National Research Agency has resigned, according to Nature News.
A senator wants a "right-to-try" provision in the US Food and Drug Administration funding bill, but an ethicist says at Stat News that it would undermine the role of clinical trials.
In PNAS this week: red algae Porphyra umbicalis genome, deep neural network model for sequencing peptides, and more.
The Guardian's Barbara Ellen has tried out some DNA testing services to see whether they provide valuable information.