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D

Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJ, Chami N, et al. Determinants of mosaic chromosomal alteration fitness. medRxiv. 2023 .

C

Thibord F, Klarin D, Brody JA, Chen M-H, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, et al. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation. 2022 ;146(16):1225-1242.

Elgart M, Goodman MO, Isasi C, Chen H, Morrison AC, de Vries PS, Xu H, Manichaikul AW, Guo X, Franceschini N, et al. Correlations between complex human phenotypes vary by genetic background, gender, and environment. Cell Rep Med. 2022 ;3(12):100844.

Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 ;45(11):1345-52.

Macri V, Brody JA, Arking DE, Hucker WJ, Yin X, Lin H, Mills RW, Sinner MF, Lubitz SA, Liu C-T, et al. Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018 ;11(5):e001663.

Tobias DK, Manning AK, Wessel J, Raghavan S, Westerman KE, Bick AG, DiCorpo D, Whitsel EA, Collins J, Correa A, et al. Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk. Diabetes Care. 2023 .

Bhattacharya R, Zekavat SM, Haessler J, Fornage M, Raffield L, Uddin MMesbah, Bick AG, Niroula A, Yu B, Gibson C, et al. Clonal Hematopoiesis Is Associated With Higher Risk of Stroke. Stroke. 2022 ;53(3):788-797.

Moll M, Sakornsakolpat P, Shrine N, Hobbs BD, DeMeo DL, John C, Guyatt AL, McGeachie MJ, Gharib SA, Obeidat M'en, et al. Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts. Lancet Respir Med. 2020 ;8(7):696-708.

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.

Georgakis MK, Malik R, Hasbani NR, Shakt G, Morrison AC, Tsao NL, Judy R, Mitchell BD, Xu H, Montasser ME, et al. Carriers of rare damaging genetic variants are at lower risk of atherosclerotic disease. medRxiv. 2023 .

Shetty NS, Gaonkar M, Pampana A, Patel N, Morrison AC, Reiner AP, Carson AP, Yu B, Psaty BM, Kooperberg C, et al. Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers. JACC Heart Fail. 2025 ;13(1):91-101.

Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen M-H, Lapchyk N, et al. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010 ;3(3):267-75.

B

Sofer T, Lee J, Kurniansyah N, Jain D, Laurie CA, Gogarten SM, Conomos MP, Heavner B, Hu Y, Kooperberg C, et al. BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. HGG Adv. 2021 ;2(3).

Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, Taylor KD, Hansen M, Borecki IB, Cupples AL, Fornage M, et al. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.

A

Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun. 2019 ;10(1):4957.

Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. Circulation. 2023 ;147(20):1556-1559.

Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, et al. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 .

Ong KLeung, Marklund M, Huang L, Rye K-A, Hui N, Pan X-F, Rebholz CM, Kim H, Steffen LM, van Westing AC, et al. Association of omega 3 polyunsaturated fatty acids with incident chronic kidney disease: pooled analysis of 19 cohorts. BMJ. 2023 ;380:e072909.

Liu X, Longchamps RJ, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Blackwell TW, Yao J, Guo X, et al. Association of mitochondrial DNA copy number with cardiometabolic diseases. Cell Genom. 2021 ;1(1).

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, et al. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 .

Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 ;94(2):223-32.

Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, et al. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 ;24(2):559-71.

Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, et al. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 :e029090.

Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, et al. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 .

Wainschtein P, Jain D, Zheng Z, Cupples AL, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, et al. Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. Nat Genet. 2022 ;54(3):263-273.

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