Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
The National Human Genome Research Institute and the National Cancer Institute also intend to fund the dissemination of genomic resources to the research community.
In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review.
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.
