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Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk.
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Haessler J, Zheng Y, Blackwell TW, Yao J, Guo X, Qian Y, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Fitzpatrick AL, Fornage M, Ding J, Carson AP, Abecasis G, Dupuis J, Reiner A, Kooperberg C, Hou L, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans‐Omics for Precision Medicine (TOPMed) Consortium; Satizabal CL, Arking DE, Liu C. Liu X, et al. J Am Heart Assoc. 2023 Oct 17;12(20):e029090. doi: 10.1161/JAHA.122.029090. Epub 2023 Oct 7. J Am Heart Assoc. 2023. PMID: 37804200 Free PMC article.
Association of mitochondrial DNA copy number with cardiometabolic diseases.
Liu X, Longchamps RJ, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Blackwell TW, Yao J, Guo X, Kurniansyah N, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Cupples LA, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Sofer T, Fitzpatrick AL, Fornage M, Ding J, Correa A, Abecasis G, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Satizabal CL, Arking DE, Liu C. Liu X, et al. Cell Genom. 2021 Oct 13;1(1):100006. doi: 10.1016/j.xgen.2021.100006. Cell Genom. 2021. PMID: 35036986 Free PMC article.
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application.
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, Rotter JI, Rich SS, Abecasis G, Carson AP, Vasan RS, Bis JC, Psaty BM, Boerwinkle E, Fitzpatrick AL, Satizabal CL, Arking DE, Ding J, Levy D; TOPMed mtDNA working group; Liu C. Sun X, et al. medRxiv [Preprint]. 2024 Jan 13:2024.01.12.24301233. doi: 10.1101/2024.01.12.24301233. medRxiv. 2024. PMID: 38260412 Free PMC article. Preprint.
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data.
Battle SL, Puiu D; TOPMed mtDNA Working Group; Verlouw J, Broer L, Boerwinkle E, Taylor KD, Rotter JI, Rich SS, Grove ML, Pankratz N, Fetterman JL, Liu C, Arking DE. Battle SL, et al. NAR Genom Bioinform. 2022 May 17;4(2):lqac034. doi: 10.1093/nargab/lqac034. eCollection 2022 Jun. NAR Genom Bioinform. 2022. PMID: 35591888 Free PMC article.
Mitochondrial DNA Copy Number Variation in Asthma Risk, Severity, and Exacerbations.
Xu W, Hong YS, Hu B, Comhair SAA, Janocha AJ, Zein JG, Chen R, Meyers DA, Mauger DT, Ortega VE, Bleecker ER, Castro M, Denlinger LC, Fahy JV, Israel E, Levy BD, Jarjour NN, Moore WC, Wenzel SE, Gaston B, Liu C, Arking DE, Erzurum SC; National Heart, Lung, and Blood Institute (NHLBI) Severe Asthma Research Program (SARP) and TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Xu W, et al. medRxiv [Preprint]. 2023 Dec 5:2023.12.05.23299392. doi: 10.1101/2023.12.05.23299392. medRxiv. 2023. PMID: 38106101 Free PMC article. Preprint.