Kaushik Ram Ganapathy

This study benchmarks RNA-seq tools for diagnostic applications, finding they identify 28 diagnoses from 68 samples but only 9 out of 74 undiagnosed cases.

ANEVA-h improves detection of rare regulatory variants by analyzing haplotype-level ASE data, increasing testable genes and reducing false positives in GTEx and clinical cohorts.

This paper recalibrates differential gene expression by genetic dosage variance to prioritize functionally relevant genes, showing enrichment in metabolic and regulatory pathways.

aseQC identifies low-quality samples in transcriptome data by quantifying allele-specific expression variation, improving rare variant interpretation.