Researchers found that about 17 percent of sporadic amyotrophic lateral sclerosis patients harbor at least one deleterious rare variant or repeat expansion.
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.
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.
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.
