Genome-wide polygenic risk scores highlight those at risk of coronary artery disease, atrial fibrillation, type 2 diabetes, IBD, and breast cancer.
Under a new partnership, Finnish DTC testing company Negen will send its raw genetic test data to BC Platforms to aid in reporting test results to clinicians.
With data from more than a million people, researchers found 111 new or known atrial fibrillation-related loci, providing clues to the condition's biology.
The German company validated the panel, which focuses on actionable results, in a 300-participant clinical study in collaboration with Robert-Bosch-Hospital in Stuttgart.
Founded last year, the company plans to develop mass spec-based tests to protein isoforms using a workflow that eliminates both LC and protein digestion.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
Using samples from obese women with hepatic steatosis, investigators uncovered ties between the condition, gut microbes, metabolites, and liver gene expression.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
In a family with unusually low LDL cholesterol levels, researchers in China found a variant in the LIMA1 gene through exome sequencing.
Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.
Researchers find that historical factors influence which genes are the most highly studied, the Atlantic reports.
The US National Science Foundation's new sexual harassment policy is to go into effect next month, according to Nature News.
Researchers report using genotyping to tie together illegal ivory shipments and trace them back to a handful of cartels, the New York Times reports.
In Nature this week: genomic ancestry analysis of Sardinians, current noncoding mutations in colorectal cancer, and more.