Article

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

2026-06-29

Abstract excerpt

Mitochondrial diseases (MDs) are clinically heterogeneous rendering ascertainment challenging. Estimates of pathogenic mitochondrial DNA (mtDNA) variants in the population range from 1 in 200 to 1 in 4,000 individuals. Inclusion of mtDNA sequencing in genomic databases facilitates comprehensive estimation of mtDNA variation. However, interpretation of low heteroplasmy variation is complex, due in part to misalignm...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f889d932-3869-5aeb-94b7-d3c6edd4f479
DOI: 10.64898/2026.06.24.26356403

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohortDOI 10.64898/2026.06.24.26356403Read

A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing DataSemantic proximity Read

Mitochondrial DNA variation across 56,434 individuals in gnomADSemantic proximity Read

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraintSemantic proximity Read

Quantifying constraint in the human mitochondrial genome.Semantic proximity Read

Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Semantic proximity Read

<i>mity</i> : A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing dataSemantic proximity Read

Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.Semantic proximity Read

Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes.Semantic proximity Read

Nuclear genetic control of mtDNA copy number and heteroplasmy in humansSemantic proximity Read

Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequencesSemantic proximity Read

Association analysis of mitochondrial DNA heteroplasmic variants: methods and applicationSemantic proximity Read

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortalitySemantic proximity Read