The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.
Researchers diagnosed almost 70 percent of the neurometabolic cases they tackled, using exome sequence data for dozens of affected children and their families.
The funding will support development of tests that detect cell-free DNA methylation patterns indicative of disease in specific tissues of the body.
CeMeT, short for Center for Metagenomics, was founded in 2014 as a spinout from genetic diagnostics firm CeGaT in Tübingen.
The WUSTL-developed method detects a bile acid that is found at increased levels in Niemann-Pick patients, and is ready for pilot testing, its developers said.
Scientists from the Okinawa Institute of Science and Technology and Kyoto University have found 14 metabolites whose levels differ in older individuals' blood.
Initially studying pancreatic tissue, the team also linked their findings to methylation patterns in blood, suggesting the possibility of developing a non-invasive test.
Metabolon's test, called Quantose IR, uses insulin and three non-glycemic biomarkers to assess the risk of a patient becoming prediabetic.
With data from the CanPREDDICT study, the partners will develop a test to predict the rate of disease progression in patients with chronic kidney disease.
The results are the first showing that a vaginal delivery microbiome can be partially replicated in C-section babies, though it is yet unclear whether this will impact their health.
A type 2 diabetes genome-wide association meta-analysis involving tens of thousands of Japanese individuals uncovered risk loci relevant to other populations.
The grant funding is being awarded to researchers from the Geisinger Health System, Penn State University, and the University of Pennsylvania.
TwoXar will use the funds to expand its engineering and commercial teams and support partnerships focused on drug candidates for metabolic and neurological diseases.
Researchers will study how prior hypoglycemic episodes can result in the "metabolic memory" of persistent vascular complications.
A partnership with the Foundation for Mitochondrial Medicine and Seahorse Bioscience, the clinical program will evaluate Seahorse's XF Technology.
The firm's approach builds on a pilot study for ISB's 100K Wellness Project, and study participants are invited to become customers.
The company will focus largely on applying mass spec to relatively established protein markers for which existing immunoassay-based tests have poor performance.
Named PromarkerD, the test is intended to predict risk of developing kidney disease in diabetics and diagnose patients with diabetic kidney disease.
The researchers published a proof of principle in Nature Communications of a panel designed to look at epigenetic variation in adipose tissue and are using it to study obesity and metabolic syndromes.
The partners will use KineMed's proteomics platform to evaluate the effect of biologics developed by Pronutria for metabolic and other diseases.
Oxford researchers are turning to virtual reality to visualize genes and regulatory elements, Phys.org says.
The Jackson Laboratory has filed a complaint accusing Nanjing University of breeding and re-selling its mouse models, the Hartford Courant reports.
In Science this week: neutrophils rely on microRNA to protect against lung inflammation, and more.
China is moving forward with plans to sequence a million citizens, the Wall Street Journal reports.