Daniela Nachmanson

This study aligns Duplex Sequencing with transgenic rodent mutation assay data to assess in vivo NDMA-induced mutagenesis, finding dose-dependent mutation frequency increases and concordant benchmark dose estimates.

The paper identifies a relationship between protein structure and glycan structure, introducing a glycoimpact matrix to predict glycosylation patterns and validate it through disease variants and engineered antibodies.

This study identifies immune microenvironment features and myoepithelial continuity as key determinants of progression in high-risk DCIS.

This paper evaluates a DuplexSeq-based mutagenesis assay in ENU-exposed rats, showing early detection of mutations and reproducible results across tissues and labs.

The paper creates a breast pre-cancer atlas by analyzing multiple micro-dissected regions from DCIS cases, revealing molecular and micro-environmental diversity and immune states associated with progression risk.

The paper identifies pathogenic variants in Lynch Syndrome genes in patients with multiple cancers and finds higher prevalence of non-LS gene variants in early-onset cases.

This paper develops a method to improve mutational profiling of pre-malignant lesions using degraded FFPE DNA, achieving better coverage and variant calling accuracy.

This paper introduces CRISPR-DS, a targeted sequencing technique that improves hybridization capture, reduces PCR bias, and enables detection of ultra-low frequency mutations.