Manuel Rivas
@mrivas03.bsky.social
Stanford professor. Interested in human genetics, AI, statistical modeling, entrepreneurship.
https://rivaslab.stanford.edu
https://rivaslab.stanford.edu
I think once the AoU data comes online will start supporting WGS more formally.
The unified meta regression models are a start to visualizing the inferences from aggregate variant analysis with variant scores (eg pathogenicity and constraint)
pubmed.ncbi.nlm.nih.gov/39896616/
The unified meta regression models are a start to visualizing the inferences from aggregate variant analysis with variant scores (eg pathogenicity and constraint)
pubmed.ncbi.nlm.nih.gov/39896616/
Unified meta regression models for rare variant association studies - PubMed
Rare variant association studies (RVAS) of complex traits have emerged as a powerful approach to advance drug discovery and diagnostics. Missense pathogenicity predictions from AlphaMissense based on ...
pubmed.ncbi.nlm.nih.gov
February 13, 2025 at 12:24 AM
I think once the AoU data comes online will start supporting WGS more formally.
The unified meta regression models are a start to visualizing the inferences from aggregate variant analysis with variant scores (eg pathogenicity and constraint)
pubmed.ncbi.nlm.nih.gov/39896616/
The unified meta regression models are a start to visualizing the inferences from aggregate variant analysis with variant scores (eg pathogenicity and constraint)
pubmed.ncbi.nlm.nih.gov/39896616/