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Journal Article
Sarnowski C, Leong A, Raffield LM, Wu P, de Vries PS, DiCorpo D, Guo X, Xu H, Liu Y, Zheng X, et al. Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. Am J Hum Genet. 2019 ;105(4):706-718.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, W Hill D, Kacprowski T, Li J, Lyytikäinen L-P, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016 ;99(1):22-39.
Lee S, Miller CL, Bentley AR, Brown MR, Nagarajan P, Noordam R, Morrison J, Schwander K, Westerman K, Kho M, et al. A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations. Res Sq. 2025 .
Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations. medRxiv. 2024 .
Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations. Mol Psychiatry. 2025 .
Gorski M, Jung B, Li Y, Matias-Garcia PR, Wuttke M, Coassin S, Thio CHL, Kleber ME, Winkler TW, Wanner V, et al. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. Kidney Int. 2020 .
Lundin JI, Peters U, Hu Y, Ammous F, Avery CL, Benjamin EJ, Bis JC, Brody JA, Carlson C, Cushman M, et al. Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations. Epigenetics. 2024 ;19(1):2333668.
Hu Y, Haessler J, Lundin JI, Darst BF, Whitsel EA, Grove M, Guan W, Xia R, Szeto M, Raffield LM, et al. Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants. Clin Epigenetics. 2025 ;17(1):54.
Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, et al. Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. Nat Genet. 2023 ;55(11):1912-1919.
Mahajan A, Spracklen CN, Zhang W, C Y Ng M, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJin, et al. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022 ;54(5):560-572.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, et al. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. medRxiv. 2023 .
Chen F, Wang X, Jang S-K, Quach BC, J Weissenkampen D, Khunsriraksakul C, Yang L, Sauteraud R, Albert CM, Allred NDD, et al. Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing. Nat Genet. 2023 ;55(2):291-300.
Natarajan P, Bis JC, Bielak LF, Cox AJ, Dörr M, Feitosa MF, Franceschini N, Guo X, Hwang S-J, Isaacs A, et al. Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis. Circ Cardiovasc Genet. 2016 .
Lu Y, Dimitrov L, Chen S-H, Bielak LF, Bis JC, Feitosa MF, Lu L, Kavousi M, Raffield LM, Smith AV, et al. Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes. Circ Genom Precis Med. 2021 ;14(4):e003258.
Eicher JD, Chami N, Kacprowski T, Nomura A, Chen M-H, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 ;99(1):40-55.
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen M-H, Raffield LM, Tardaguila M, Huffman JE, et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 ;182(5):1214-1231.e11.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MSunitha, Sun R, Dey R, Arnett DK, et al. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
Georgakis MK, Malik R, Bounkari OEl, Hasbani NR, Li J, Huffman JE, Shakt G, Tack RWP, Kimball TN, Asare Y, et al. Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk. Genome Med. 2025 ;17(1):27.
Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, et al. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.
Wang Y, Selvaraj MSunitha, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 .
Choi SHoan, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng L-C, Pirruccello JP, et al. Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk. Nat Genet. 2025 ;57(3):548-562.
Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang M-Z, et al. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat Comput Sci. 2025 ;5(2):125-143.
Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, et al. A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. bioRxiv. 2023 .
Yu B, Roberts MB, Raffield LM, Zekavat SMaryam, Nguyen NQuynh H, Biggs ML, Brown MR, Griffin G, Desai P, Correa A, et al. Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure. J Am Coll Cardiol. 2021 ;78(1):42-52.

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