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Page 1
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.
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.
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Longchamps RJ, et al. Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 2. Hum Genet. 2022. PMID: 34859289 Free PMC article.
Epigenome-wide association study of mitochondrial genome copy number.
Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Wang P, et al. Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240. Hum Mol Genet. 2021. PMID: 34415308 Free PMC article.
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs.
Castellani CA, Longchamps RJ, Sumpter JA, Newcomb CE, Lane JA, Grove ML, Bressler J, Brody JA, Floyd JS, Bartz TM, Taylor KD, Wang P, Tin A, Coresh J, Pankow JS, Fornage M, Guallar E, O'Rourke B, Pankratz N, Liu C, Levy D, Sotoodehnia N, Boerwinkle E, Arking DE. Castellani CA, et al. Genome Med. 2020 Sep 28;12(1):84. doi: 10.1186/s13073-020-00778-7. Genome Med. 2020. PMID: 32988399 Free PMC article.
Mitochondrial DNA copy number and incident atrial fibrillation.
Zhao D, Bartz TM, Sotoodehnia N, Post WS, Heckbert SR, Alonso A, Longchamps RJ, Castellani CA, Hong YS, Rotter JI, Lin HJ, O'Rourke B, Pankratz N, Lane JA, Yang SY, Guallar E, Arking DE. Zhao D, et al. BMC Med. 2020 Sep 16;18(1):246. doi: 10.1186/s12916-020-01715-6. BMC Med. 2020. PMID: 32933497 Free PMC article.
21 results