Gowtham Jayakumaran

Enhanced clinical assessment of hematologic malignancies through routine paired tumor:normal sequencing

This study presents a paired tumor:normal sequencing dataset for hematologic malignancies, showing improved identification of somatic variants and their clinical relevance.

MiMSI - a deep multiple instance learning framework improves microsatellite instability detection from tumor next-generation sequencing

MiMSI improves MSI detection in low tumor purity samples using deep learning and multiple instance learning, achieving higher sensitivity and auROC than existing methods.

Enhanced specificity of high sensitivity somatic variant profiling in cell-free DNA via paired normal sequencing: design, validation, and clinical experience of the MSK-ACCESS liquid biopsy assay

The paper describes the development and clinical application of MSK-ACCESS, a liquid biopsy assay that improves the specificity of somatic variant detection in cell-free DNA by using paired normal sequencing.