Nagarajan Paramasivam

ZygosityPredictor evaluates the number of gene copies affected by mutations in sequencing data, providing confidence measures for precision oncology applications.

This study identifies a novel germline POT1 mutation (p.V29L) associated with familial non-medullary thyroid cancer and shows it causes telomere dysfunction.

This study uses whole genome sequencing to identify potential familial Hodgkin lymphoma predisposing genes in three families, finding a novel DICER1 variant in one family.

This paper presents a pipeline for identifying and prioritizing causal variants in genetic disorders using exome or whole genome sequencing data, achieving success in over 35% of neurodevelopmental disorder cases.

The paper describes the PCAWG project's large-scale analysis of cancer whole genomes across multiple computing environments, producing validated consensus variants for downstream research.