Nagarajan Kathiresan

HPC-based genome variant calling workflow (HPC-GVCW)

The paper presents an HPC-based workflow for genome variant calling using GATK, demonstrating SNP detection in four plant species and identifying novel SNPs in rice.

Pan-genome inversion index reveals evolutionary insights into the subpopulation structure of Asian rice (Oryza sativa)

The paper constructs a pan-genome inversion index for Asian rice using 16 genomes and finds a high inversion rate with functional implications.

DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning

DeepSVP prioritizes pathogenic structural variants by integrating genotype and phenotype data using deep learning, improving benchmark performance and identifying novel variants in consanguineous families.

On the Depth of Deep Learning Models for Splice Site Identification

This study compares deep learning models for splice site identification, finding that shallow models outperform deep ones and introduces a new shallow ResNet variant.