Avinash Ramu

The paper uses active learning to improve models of enhancer and silencer activities in mouse retina, achieving better discrimination between functionally distinct TF binding sites.

The paper shows that stochastic fluctuations in Prrx1 transcription factor activity contribute to cell-to-cell variability in Hedgehog signaling response in NIH3T3-CG cells.

This study maps postzygotic mutations across tissues and lifespan, showing their functional variation and selection pressures, suggesting multiple dynamic genomes per individual.

RegTools identifies splice-associated variants in cancer by integrating genomic and transcriptomic data across 9,000 tumor samples, discovering 235,778 splicing events.

The paper introduces SARGENT, a method to measure gene expression noise and mean expression across the genome, finding correlations between noise and histone modifications, and linking extrinsic noise to cell sub-states.

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

Arnav identifies RNA sequencing variants using site-specific error models, showing utility with GTEx data.

The paper identifies somatically mutated genes under positive and negative selection and links them to oncogenic processes using transcriptome sequence analysis.

CIViC is a knowledgebase that crowdsources expert input to interpret the clinical significance of cancer variants, providing open-access resources for precision medicine.