Ellen Heitzer

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

This study identifies tissue architecture and immune niches as key factors influencing ctDNA release in colorectal cancer by integrating spatial transcriptomics and in situ mutation detection.

This study validates a pan-cancer NGS assay for liquid biopsy testing across multiple centers, showing high sensitivity and specificity for detecting genomic alterations in cfDNA.

The paper develops a novel CoDuCo in situ hybridization method combined with machine learning to classify and characterize circulating tumor cells in prostate cancer, identifying resistance mechanisms and therapeutic targets.

The paper measures mutation rates in S. pombe using canavanine resistance and finds that spontaneous mutants predominantly have an R175C mutation in the any1 gene, which confers resistance through altered arginine transport and cell morphology.

This study uses whole-genome sequencing of plasma DNA to infer expressed genes by analyzing nucleosome occupancy patterns and classifies cancer driver genes in metastatic patients.