These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing. Gould MP; Bosworth CM; McMahon S; Grandhi S; Grimberg BT; LaFramboise T PLoS One; 2015; 10(10):e0139253. PubMed ID: 26488301 [TBL] [Abstract][Full Text] [Related]
3. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing. Palculict ME; Zhang VW; Wong LJ; Wang J Methods Mol Biol; 2016; 1351():3-17. PubMed ID: 26530670 [TBL] [Abstract][Full Text] [Related]
4. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Horvath R; Benet-Pagès A; Diebold I Mol Genet Genomic Med; 2018 Nov; 6(6):1188-1198. PubMed ID: 30406974 [TBL] [Abstract][Full Text] [Related]
5. Evaluating heteroplasmic variations of the mitochondrial genome from whole genome sequencing data. Duan M; Chen L; Ge Q; Lu N; Li J; Pan X; Qiao Y; Tu J; Lu Z Gene; 2019 May; 699():145-154. PubMed ID: 30876822 [TBL] [Abstract][Full Text] [Related]
6. Applying genomic and transcriptomic advances to mitochondrial medicine. Macken WL; Vandrovcova J; Hanna MG; Pitceathly RDS Nat Rev Neurol; 2021 Apr; 17(4):215-230. PubMed ID: 33623159 [TBL] [Abstract][Full Text] [Related]
8. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Santibanez-Koref M; Griffin H; Turnbull DM; Chinnery PF; Herbert M; Hudson G Mitochondrion; 2019 May; 46():302-306. PubMed ID: 30098421 [TBL] [Abstract][Full Text] [Related]
9. Molecular characterization of variants in mitochondrial DNA encoded genes using next generation sequencing analysis and mitochondrial dysfunction in women with PCOS. Shukla P; Mukherjee S; Patil A; Joshi B Gene; 2023 Mar; 855():147126. PubMed ID: 36563715 [TBL] [Abstract][Full Text] [Related]
10. Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Falk MJ; Pierce EA; Consugar M; Xie MH; Guadalupe M; Hardy O; Rappaport EF; Wallace DC; LeProust E; Gai X Discov Med; 2012 Dec; 14(79):389-99. PubMed ID: 23272691 [TBL] [Abstract][Full Text] [Related]
11. The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. Dames S; Chou LS; Xiao Y; Wayman T; Stocks J; Singleton M; Eilbeck K; Mao R J Mol Diagn; 2013 Jul; 15(4):526-34. PubMed ID: 23665194 [TBL] [Abstract][Full Text] [Related]
12. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data. Goudenège D; Bris C; Hoffmann V; Desquiret-Dumas V; Jardel C; Rucheton B; Bannwarth S; Paquis-Flucklinger V; Lebre AS; Colin E; Amati-Bonneau P; Bonneau D; Reynier P; Lenaers G; Procaccio V Genet Med; 2019 Jun; 21(6):1407-1416. PubMed ID: 30393377 [TBL] [Abstract][Full Text] [Related]
13. HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. Lin Y; Wang J; Xu R; Xu Z; Wang Y; Pan S; Zhang Y; Tao Q; Zhao Y; Yan C; Cao Z; Ji K BMC Genomics; 2024 May; 25(1):538. PubMed ID: 38822239 [TBL] [Abstract][Full Text] [Related]
14. Mitochondrial DNA enrichment reduced NUMT contamination in porcine NGS analyses. Wang D; Xiang H; Ning C; Liu H; Liu JF; Zhao X Brief Bioinform; 2020 Jul; 21(4):1368-1377. PubMed ID: 31204429 [TBL] [Abstract][Full Text] [Related]
15. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Zascavage RR; Hall CL; Thorson K; Mahmoud M; Sedlazeck FJ; Planz JV Curr Protoc Hum Genet; 2019 Dec; 104(1):e94. PubMed ID: 31743587 [TBL] [Abstract][Full Text] [Related]
16. Mitochondrial Diseases: A Diagnostic Revolution. Schon KR; Ratnaike T; van den Ameele J; Horvath R; Chinnery PF Trends Genet; 2020 Sep; 36(9):702-717. PubMed ID: 32674947 [TBL] [Abstract][Full Text] [Related]
17. Long read mitochondrial genome sequencing using Cas9-guided adaptor ligation. Vandiver AR; Pielstick B; Gilpatrick T; Hoang AN; Vernon HJ; Wanagat J; Timp W Mitochondrion; 2022 Jul; 65():176-183. PubMed ID: 35787470 [TBL] [Abstract][Full Text] [Related]
18. Recent advances in understanding the molecular genetic basis of mitochondrial disease. Thompson K; Collier JJ; Glasgow RIC; Robertson FM; Pyle A; Blakely EL; Alston CL; Oláhová M; McFarland R; Taylor RW J Inherit Metab Dis; 2020 Jan; 43(1):36-50. PubMed ID: 31021000 [TBL] [Abstract][Full Text] [Related]
19. Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening. Płoszaj T; Antosik K; Młudzik P; Traczyk-Borszyńska M; Borowiec M Comput Methods Programs Biomed; 2020 Oct; 194():105529. PubMed ID: 32470904 [TBL] [Abstract][Full Text] [Related]
20. Impact of the sequencing method on the detection and interpretation of mitochondrial DNA length heteroplasmy. Sturk-Andreaggi K; Parson W; Allen M; Marshall C Forensic Sci Int Genet; 2020 Jan; 44():102205. PubMed ID: 31783338 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]