Through exome sequencing, researchers have uncovered a new neurodevelopmental syndrome and the gene behind it.
Researchers sequenced and analyzed the negative-sense RNA tilapia lake virus, implicated in large die-offs of farmed and wild tilapia in Israel and Ecuador.
Researchers identified a common variant in a long non-coding RNA that may contribute to inflammation seen in patients diagnosed with celiac disease.
The collaboration between Columbia University and The Hebrew University suggests some surprising biology could improve loss-of-function genetic screening.
The study hints that iPSCs derived from patients with the hereditary disease could be edited ex vivo and reintroduced to fix damaged retinas.
The funds from the Sohn Conference Foundation will allow the university to provide sequencing analysis and expertise to kids with cancer to hospitals in the city.
The researchers looked at the first 10,030 consecutive patients referred to GeneDx for germline hereditary cancer panel testing by next-generation sequencing.
As part of a course this fall, 20 undergraduate and graduate students used the MinIon in two hands-on "hackathon" sequencing projects.
The performance of WES for genetically heterogeneous disorders improves significantly when testing is performed on the proband and two or more family members.
Both tests analyze tumor and normal samples by next-generation sequencing to help doctors make therapy decisions for cancer patients.
A federal judge has ruled that drug companies, device manufacturers, and universities need to provide missing clinical data from hundreds of trials to a federal website, ScienceInsider reports.
A genetic analysis suggests red pandas might actually belong to two different species, New Scientist reports.
NPR reports that the US Centers for Disease Control and Prevention has fixed the problem with some of its SARS-CoV-2 testing kits.
In Nature this week: epigenetic factors that prevent healthy aging and more.