Elizabeth K. Schmidt

Duplex sequencing of a Li-Fraumeni family links germline TP53 p.R181H to higher neutral-region mutagenesis and weaker blood TP53 selection, plus recurrent p.R248Q/W hits across proband tissues.

This study shows that aged livers have heightened interferon signaling that suppresses cancer but also has harmful effects, leading to a 'precarious balance' in tumor development.

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 examines how mitochondrial haplotype and mito-nuclear matching influence somatic mutation and selection in aging mice across tissues.

This study demonstrates that error-corrected Duplex Sequencing reliably detects and quantifies mutations in human TK6 cells across different laboratories and time points.

The paper identifies a mutational gradient in mtDNA that correlates with replication and influences mutation accumulation and genome composition.

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