The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
The company has begun piloting the software, which is targeted towards bioinformatics companies and clinical laboratories, with early adopters ahead of the planned launch.
Researchers compared findings from genome-wide association studies for 62 traits or conditions with genes implicated in 20 Mendelian disorder types, uncovering new ties.
In PLOS this week: resource to track Mendelian disease-related variants in dogs, microRNAs linked to atrial fibrillation in surgical patients, and more.
The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.
