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.
A new analysis says sequencing early in in the diagnostic process for infants with suspected Mendelian disorders is cost-effective.
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.
Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.
In Science this week: analysis of DNA from ancient North Africans, and more.
The researchers developed phenotype risk scores that they could apply to electronic health record data to uncover undiagnosed genetic disease.
The Hill reports President Donald Trump issued an executive directing federal agencies to cut the number of board and advisory committees they have.
Scientists in Canada are looking to the UK's plan to sequence children with rare conditions for inspiration, the National Post reports.
The New York Times reports that researchers are combining tools to more quickly develop crops to feed a growing population and cope with shifting climates.
In PNAS this week: copy number changes arose during polar bear evolution, genomic and transcriptomic analysis of the Siberian hamster, and more.