2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
Gorman E, Dai H, Feng Y, Craigen W, Chen D, Xia F, Meng L, Liu P, Rigobello R, Neogi A, Eng C, Wang Y. Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis. Frontiers In Genetics 2025, 16: 1488956. PMID: 40110048, PMCID: PMC11920145, DOI: 10.3389/fgene.2025.1488956.Peer-Reviewed Original ResearchNext-generation sequencingMitochondrial genomeComprehensive molecular diagnosisMitochondrial disordersMitochondrial diseaseMolecular diagnosisNext-generation sequencing panel testingMolecular diagnosis of mitochondrial disordersDiagnosis of mitochondrial disordersDisease-causing genesPanel testingMtDNA genomeNuclear genomeNuclear genesMtDNA heteroplasmyDiagnosing mitochondrial disordersMitochondrial heteroplasmyHeteroplasmy levelsGenomeP/LP variantsGenetic heterogeneityMtDNAHeteroplasmyGenomic testingPhenotypic variability
2024
Mitochondrial Heteroplasmy Is a Novel Predictor of Chronic Lymphocytic Leukemia Risk
Pasca S, Hong Y, Shi W, Puiu D, Lake N, Lek M, Guallar E, Arking D, Gondek L. Mitochondrial Heteroplasmy Is a Novel Predictor of Chronic Lymphocytic Leukemia Risk. Blood 2024, 144: 4054-4054. DOI: 10.1182/blood-2024-210250.Peer-Reviewed Original ResearchMitochondrial heteroplasmyClonal hematopoiesis of indeterminate potentialMtDNA heteroplasmyWhole-exome sequencing dataSomatic mutationsPresence of somatic mutationsExome sequencing dataCancer-associated genesClonal hematopoiesisClonal expansionVariant allele frequencyAssociated with myeloid malignanciesMtDNA variantsMitochondrial DNAPresence of mutationsSequence dataUK Biobank (UKBBiologically significant roleDeleterious mutationsHeteroplasmyChronic lymphocytic leukemia riskAllele frequenciesOncogenic transformationMitochondrial functionMyeloid genes
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