Geisinger and UPenn researchers found that Titin truncations revealed by exome sequencing increased DCM risk in those with European but not with African ancestry.
The firm has developed a digital platform that determines whether patients meet guidelines for genetic testing, and if so, what test they should receive.
At the AGBT meeting last night, Johns Hopkins researcher Joshua Cohen said that the partners are looking to recruit 50,000 healthy individuals for the study.
Among the firms presenting, 10x noted that it doubled its revenue growth in 2018, and Myriad discussed the impact that new tests are having on its growth.
Genetic counselors, laboratories, and patients themselves have roles to play in reclassifying gene variants, including variants of uncertain significance.
The chatbot developed with Clear Genetics follows up with patients after genetic testing and educates family members at risk for inheriting the same mutations.
Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.
Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.
