Using transcription data from cells and nuclei, the researchers uncovered heterogeneity within cardiac cells and mapped them to particular regions of the heart.
The test is based on 13 genes that form a gene signature in the blood of children with Kawasaki disease, and it enables KD to be distinguished from other diseases.
The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.
The UK Department of Health and Social Care has already ordered 10,000 RNA test cartridges from the company, which expects to obtain a CE-IVD mark for its test within weeks.
In PNAS this week: comparative genomic analysis to find Pseudomonas aeruginosa virulence genes, "anti-CRISPR" proteins in Staphylococcus aureus, and more.
Although polygenic risk scores for coronary artery disease can slightly improve standard risk assessment tools, the predicted clinical impact remains small.
An international group of researchers aim to develop an approach that may be able to diagnose multiple conditions, including pneumonia, tuberculosis, sepsis, with one blood sample.
