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 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.