Thomas Horace Smith

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome

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.

Alignment between Duplex Sequencing and transgenic rodent mutation assay data in the assessment of in vivo NDMA-induced mutagenesis

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.

Error-corrected Duplex Sequencing enables direct detection and quantification of mutations in human TK6 cells with remarkable inter-laboratory consistency

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

Single-cell analysis of Non-CpG methylation dynamics and gene expression in human oocyte maturation

The paper investigates non-CpG methylation dynamics and gene expression in human oocyte maturation, finding that non-CG DMRs correlate with gene expression changes and transcription factor binding.