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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.
Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D; NHLBI Trans-Omics for Precision Medicine TOPMed Consortium. Liu C, et al. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. Mitochondrion. 2021. PMID: 34303007 Free PMC article.