Expert Interview
Looking at the potential of Google's AI variant effect predictor, AlphaMissense which can predicts the chances that tens of millions of genetic variants will cause disease
Ticker(s): GOOGInstitution: University of Colorado
- Director, Adult Medical Genetics Program & Associate Director, Colorado Center for Personalized Medicine.
- Directs clinical trials for rare diseases, directs international registry of >100 patients with Danon Disease; site PI for Rocket Pharmaceuticals Gene Therapy trial.
- Research laboratory focuses on the genetic basis of heritable cardiac disease where he deploys NextGen DNA sequencing, RNASeq, bioinformatics, along with cell-based and animal-based disease modeling.
Describe your background and research setting
Added By: ben_adminReview your usage of current variant effect predictors
Added By: ben_adminWhat is your opinion on the potential of Google's AlphaMissense AI predictor?
Added By: ben_adminCan you give a bit of background and your opinion on the use of variant effect predictors like SIFT, GERP, PolyPhen, and Google's AlphaMissense?
Are the variant effect prediction programs usually made by academic institutions or companies like Google?
What does Google's AlphaMissense add to the existing variant effect prediction softwares?
Does AlphaMissense focus only on Missense variants? Is it not suitable for other types of mutations like deletions or frame shifts?
Was Google's AlphaFold released a few years ago, and is AlphaMissense a more recent development?
How user-friendly are these variant effect prediction softwares? Is there a lot of training or support provided?
Are these softwares open access and free, or do researchers have to pay to use them?
Are there any other technologies in this space that you're interested in or think are worth exploring?
Are You Interested In These Questions?
Slingshot Insights Explained
Expert research benefits investors by giving them timely access to unbiased real world perspectives on highly specialized topics. Slingshot Insights' crowdfunded model makes this access available at a fraction of the cost of other expert networks.
Reason
*Slingshot Insights provides access to information, not investment advice. We work to support you and facilitate access to experts; however we are not responsible for monitoring calls for the disclosure of MNPI. You should obtain financial, legal and tax advice from your qualified and licensed advisers before deciding to invest in any security.
