Shubhankar Londhe

The paper benchmarks variant effect scores using UK Biobank data on ultra-rare variant carriers, showing coding and splicing scores better predict protein abundance and traits than transcriptional regulation models.

The paper improves aberrant splicing variant prediction across developmental stages and identifies developmentally restricted variants linked to neurodevelopmental disorders.

FuncRVP improves rare variant polygenic risk scores by integrating functional gene embeddings, enhancing performance for traits with higher heritability.

This study benchmarks 11 machine learning methods for predicting in vivo RBP-RNA interactions across hundreds of CLIP-seq datasets and RBPs.