Methods and Tools

Meta-regression models

We’ve developed a class of meta-regression models designed to integrate variant level features including constraint, pathogenicity, loss-of-function annotation, and evolutionary scores. It improves power over standard rare variant genetic analysis as is showcased in our epilepsy application.

Bayesian summary statistic framework

We’ve developed a Bayesian framework for rare variant aggregation analysis that uses a full Kronecker expansion of the prior matrices.

We’ve also developed a Bayesian clustering algorithm for rare variant effect profiles.

Penalized regression for ultrahigh-dimensional problems

We’ve developed algorithms for fitting penalized regression to ultrahigh-dimensional problems.

  1. snpnet 
  2. sparse-snpnet and snpnet-2.0 with selective inference
  3. snpnet-Cox 
  4. multiSnpnet Fast Multi-Phenotype Sparse Reduced Rank Regression on Genetic Data
  5. multiSnpnet-Cox, mrcox Efficient Group-Sparse Lasso solver for multi-response Cox model
  6. multiSnpnet-Cox-gpu GPU version of multiSnpnet-Cox
  7. multiSnpnet-Cox-tv, Coxtv Regularized Cox proportional hazard model with time-varying covariate
  8. regularizedMR Regularized Mendelian randomization

Causal inference methods

We’ve developed methods for causal inference from population biobank data.

  1. cGAUGE: Causal Graphical Analysis Using GEnetics 

Decomposition of genetic effect methods

We’ve developed methods to decompose genetic effects from large-scale human genetic studies and project them to individual risk.

  1. DEcomposition of Genetic ASsociations 
  2. DeGAs-risk scores 

Additional polygenic risk score methods

We’ve developed methods that train sex-aware polygenic risk models, and that use genetic risk from biomarkers in addition to disease risk scores.

  1. Sex-specific Effects Mixture Model 
  2. multiPRS 

Visualization and inference engine

We’ve developed Global Biobank Engine, software for visualizing genetic association results from population biobank data.

  1. Global Biobank Engine

Artificial intelligence tools

We’ve developed artificial intelligence tools for tumor board discussions, and interpreting rare variants from whole genome sequencing data.

  1. Artificial intelligence tumor board dashboard