Shobana Sekar

All2 filters mosaic mutations from multi-cell comparisons by classifying variants as germline, mosaic, or false positive, improving sensitivity and reducing false positives in whole genome and exome analysis.

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

ACValidator validates circRNAs by assembling reads around junctions and aligning contigs to detect back-spliced junctions, achieving high sensitivity and specificity in simulated and experimental datasets.

The paper identifies circRNAs and their regulatory networks in posterior cingulate astrocytes from elderly subjects, finding enriched immune response pathways.