Independent research teams identified mutations in a chloride ion channel gene in some cases of aldosteronism, a condition that can cause severe hypertension.
A team of French researchers estimated the total cost of performing clinical next-generation sequencing tests and found that consumables drive the price.
The new European initiative promises to deliver multiple new tests and methods for improving the treatment of breast cancer and rectal cancer.
Philips and its partners aim to combine liquid biopsy with magnetic resonance imaging to enable personalized cancer treatment.
An analysis of new and available liver cancer genomes led to 10 mutational signatures and six structural rearrangement signatures in hepatocellular carcinoma.
An exome-wide association study involving almost 2,800 individuals with dilated cardiomyopathy led to six new and two known susceptibility loci.
Two research teams reported detecting prions using different versions of the same assay, and one said it could detect the proteins before the onset of symptoms.
A proteomic analysis of pancreatic ductal adenocarcinoma tumor and stromal samples led to a stromal protein that appears to coincide with tumor aggressiveness.
The initiative, launched last year by Quest and the French National Institute of Health and Medical Research, has reclassified 375 variants of unknown significance so far.
Ranomics is building a business around providing functional data on variants of unknown significance, starting with BRCA1 mutations.
A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.
Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.
In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.
A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.