URMD-Seq: A high-throughput method for scalable detection of ultra-rare mutations in the human mitochondrial genome

2026-02-11

PRE

Zeshuo E.S. Li

Rachel Dunn

Loïc C. Caloren

Adam S. Ziada

Hailey Chapman

Izabelle Gadawska

Hélène C.F. Côté *

DOI：10.1016/j.mito.2026.102134

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• URMD-Seq enables accurate detection of ultra-rare mtDNA variants at very low allele frequency not detected by classical next-gen sequencing. • Unique molecular identifier-based error suppression distinguishes true variants from PCR and sequencing artefacts. • The method is well suited for epidemiological studies with moderate to large sample size. • Analysis parameter can be customized, and their optimization balances false-positive suppression and signal retention.

Keywords:

URMD-Seq

ultra-rare mtDNA variants

unique molecular identifiers

error suppression

high-throughput detection

URMD-Seq: A high-throughput method for scalable detection of ultra-rare mutations in the human mitochondrial genome

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