Clinical Whole Genome and Exome Sequencing Pipeline

Fully convolutional deep learning variant effect predictor architecture

CADD-SV – a framework to score the effect of structural variants

Implementation of evolutionary model of variant effect (EVE), a deep generative model of evolutionary data, in PyTorch.

Deep learning framework to predict functional effects of missense variants in human

Deep learning model for non-coding regulatory variants

An explorative tool to identify functional hotspots

Experimenting with protein language model predictions

Workflow to Explore and Analyze Variants of Eukaryotic Populations