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
2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma
Mitchell O, Gilliam K, del Gaudio D, McNeely K, Smith S, Acevedo M, Gaduraju M, Hodge R, Ramsland A, Segal J, Das S, Hathaway F, Bryan D, Tawde S, Galasinski S, Wang P, Tjota M, Husain A, Armato S, Donington J, Ferguson M, Turaga K, Churpek J, Kindler H, Drazer M. Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Network Open 2023, 6: e2327351. PMID: 37556141, PMCID: PMC10413174, DOI: 10.1001/jamanetworkopen.2023.27351.Peer-Reviewed Original ResearchConceptsP/LP germline variantsGermline P/LP variantsP/LP variantsGermline variantsNext-generation sequencingGermline testingGenomic profiles of patientsHereditary cancer syndrome diagnosisTumor-only sequencingProportion of patientsPositive predictive valueProfile of patientsUniversal germline testingCase seriesFollow-upGenomic profilingMesotheliomaSyndrome diagnosisPatientsGermline originPredictive valueP/LPGermlineNon-Hispanic whitesClinical approach
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