Evidence map›Paper›PMID 42850586›Full record

ArticleBMC genomics2026

Long-read sequencing enables high-accuracy mitochondrial heteroplasmy detection in Parkinson's disease.

Theresa Lüth, Susen Schaake, Christoph Much, Mary Megan Belyea, Philip Seibler, Anne Grünewald, Patrick May, Christine Klein, Hansi Weissensteiner, Joanne Trinh

Abstract read
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In one paragraph

Article in BMC genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Theresa LüthInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Susen SchaakeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Christoph MuchInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Mary Megan BelyeaInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Philip SeiblerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Anne GrünewaldInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Patrick MayLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Hansi WeissensteinerInstitute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
Joanne TrinhInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany. joanne.trinh@uni-luebeck.de.

Funding

Deutsche Forschungsgemeinschaft TR 1714/8-1Fonds National de la Recherche Luxembourg FNR11250962Michael J. Fox Foundation for Parkinson''s Research #025802Michael J. Fox Foundation for Parkinson''s Research MJFF-026376
6 · The paper itself

Abstract

backgroundLow-frequency heteroplasmic mitochondrial DNA (mtDNA) variants are associated with aging and neurological diseases, including Parkinson's disease (PD). Targeted deep mtDNA sequencing using PacBio HiFi long reads has the potential to resolve heteroplasmy across the full mitochondrial genome with high accuracy.

methodsTo validate Vega PacBio sequencing for detecting mtDNA heteroplasmy, we analyzed four predefined mixtures of two mtDNA haplotypes. We generated a single long-range PCR amplicon covering the entire mitochondrial genome. These amplicons were mixed at predefined ratios (minor mixture haplotype component: 5%, 2%, 1%, and 0.1%). Variant calling was performed using Mutserve2, and accuracy was assessed by calculating the F

resultsThe single-amplicon approach enabled full-length haplotype resolution without amplification bias associated with overlapping PCR strategies. The F

conclusionPacBio HiFi sequencing, combined with a single-amplicon strategy, enables accurate full-length mtDNA heteroplasmy detection and longitudinal analysis, providing a valuable tool for studying mitochondrial variation and dynamics in disease.

Indexed as

DNA, MitochondrialHeteroplasmyHigh-Throughput Nucleotide SequencingParkinson DiseaseSequence Analysis, DNAGenome, MitochondrialHaplotypesHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2DNA, MitochondrialLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanBenchmarkingHeteroplasmyLong-readLow-frequency variantLRRK2MixturesmtDNAPacBio sequencingParkinson''s disease

Identifiers

PMID42850586

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.