Logo

EnGenome eVai Variant Interpretation/Genomenon Mastermind Genomic Search Engine

May 14, 2020

Genomenon's Mastermind Genomic Search Engine has been integrated into the eVai Variant Interpretation platform from EnGenome, Genomenon said. eVai users can now preview the number of published articles related to their search and easily link out to view the evidence in Mastermind. By combining artificial intelligence with ACMG-AMP guidelines, eVai classifies and prioritizes every genomic variant for pathogenicity, suggesting all possible related genetic diagnoses. Mastermind has indexed more than 7.5 million full-text articles and 1.5 million supplemental data sets, and covers more than 6.1 million variants found in the medical literature.

Breaking News
The Scan

Cell Signaling Pathway Identified as Metastasis Suppressor

A new study in Nature homes in on the STING pathway as a suppressor of metastasis in a mouse model of lung cancer.

Using Bees to Gain Insights into Urban Microbiomes

As bees buzz around, they pick up debris that provides insight into the metagenome of their surroundings, researchers report in Environmental Microbiome.

Age, Genetic Risk Tied to Blood Lipid Changes in New Study

A study appearing in JAMA Network Open suggests strategies to address high lipid levels should focus on individuals with high genetic risk and at specific ages.

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.