Luis Alberto Diaz

Reference-free microsatellite instability detection from tumor sequencing using intrasample variability modeling

PROMIS detects microsatellite instability in tumor sequencing without reference data or matched normals, achieving high accuracy across multiple cancer types and sample types.

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.

Oncologic Therapy Shapes the Fitness Landscape of ClonalHematopoiesis

The paper shows oncologic therapy increases clonal hematopoiesis with DDR mutations, which predicts risk of therapy-related myeloid neoplasms.