Anushya Muruganujan

SNPWay provides a streamlined workflow for SNP-to-function and pathway over-representation analysis using integrated tools and a web server.

The paper benchmarks SNP annotation tools and gene models across the genome, showing discrepancies in annotation and their impact on pathway analysis.

The paper updates the Alliance of Genome Resources' central infrastructure, adding tools and enhancing data management and curation capabilities.

BDQC identifies data outliers and anomalies in large-scale genomic pipelines without domain knowledge, improving data quality and enabling new insights.