Evin M. Padhi

The paper reports on the All of Us multi-omics cohort, identifying 182,246 QTLs and demonstrating rare variant effects across proteomic and transcriptomic data.

The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.

The paper studies how dietary metabolites interact with genetic variants to influence colon cancer risk through transcriptional regulation.

The paper predicts the regulatory effects of non-coding variants across brain and heart cellular contexts using deep learning, identifying rare variants with significant developmental impacts.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

ACES is a computational workflow that queries specific sequences against multiple reference genomes to analyze conservation, generating alignment and phylogenetic data.

The paper identifies de novo variants in the 1000 Genomes Project using a GPU-based workflow, revealing cell line artifacts and cancer-related mutation profiles.