As the world’s most comprehensive genomic search engine, geneticists have found Mastermind to be an invaluable tool for reducing their turn-around time and increasing diagnostic yield.
Genomenon exhibited at ASHG in October of 2019. Look below for recordings of our CoLab session with Rady Children’s Institute of Genomic Medicine and the University of Pittsburgh Medical Center.
COLAB SESSION VIDEOS
How Rady Children’s Institute and University of Pittsburgh Medical Center are Automating Literature Curation and Variant Interpretation
Efficiently interpreting the clinical significance of genetic variants remains the most challenging component of any genome sequencing workflow.
In these videos of our ASHG session, hear from two leaders who are blazing a trail toward more automated literature curation and variant interpretation workflows to meet their rapidly growing needs. Speakers from UPMC and Rady shared the tools and processes that are in place now, along with their plans for the future.