Luis Alberto Diaz

Universal Germline Genetic Testing after a Diagnosis of Cancer

Age at diagnosis among patients with cancer is a predictor of pathogenic germline variant prevalence, yet age thresholds often misclassify genetic risk. We performed germline sequencing of 39,184 unselected patients with solid malignancies spanning 32 tumor types, interrogating >...

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

ABSTRACT Microsatellite instability (MSI) is a key predictive biomarker across multiple tumor types, but current next-generation sequencing (NGS)-based callers oftendependon matched normals, large reference panels, or pretrained machine-learning models, which limits portability a...