The integration of genetic and epigenetic information is essential for a comprehensive understanding of genome function and regulation. Traditional sequencing methods often fall short in capturing both genetic variants and epigenetic modifications such as 5‑methylcytosine (5mC) and 5‑hydroxymethylcytosine (5hmC) simultaneously. Recent advances in 6-base sequencing have enabled the simultaneous, base-resolution detection of canonical bases and key cytosine modifications in a single workflow. This review explores the biological significance of 5mC and 5hmC, discusses current methods to achieve 6-base sequencing, and highlights recent applications in academic and clinical settings.
Researchers at Johns Hopkins use duet evoC to reveal genetic and epigenetic mechanistic biomarkers of catastrophic antiphospholipid syndrome
26 February 2026
Integrated genetic and methylation analysis reveals how either mutational or epigenetic silencing drives disease
