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Journal Article
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAGagliano, Corvelo A, Gogarten SM, Kang HMin, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
Wang Z, Chen H, Bartz TM, Bielak LF, Chasman DI, Feitosa MF, Franceschini N, Guo X, Lim E, Noordam R, et al. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
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 .
Jang S-K, Evans L, Fialkowski A, Arnett DK, Ashley-Koch AE, Barnes KC, Becker DM, Bis JC, Blangero J, Bleecker ER, et al. Rare genetic variants explain missing heritability in smoking. Nat Hum Behav. 2022 .
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.
Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, Brody JA, Chasman DI, Chen M-H, Guo X, et al. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 ;72(7):781-8.
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.
Dumitrescu L, Carty CL, Franceschini N, Hindorff LA, Cole SA, Bůzková P, Schumacher FR, Eaton CB, Goodloe RJ, Duggan DJ, et al. Post-genome-wide association study challenges for lipid traits: describing age as a modifier of gene-lipid associations in the Population Architecture using Genomics and Epidemiology (PAGE) study. Ann Hum Genet. 2013 ;77(5):416-25.
Avery CL, He Q, North KE, Ambite JL, Boerwinkle E, Fornage M, Hindorff LA, Kooperberg C, Meigs JB, Pankow JS, et al. A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 2011 ;7(10):e1002322.
Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng C-Y, Sim X, et al. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018 ;13(6):e0198166.
Dumitrescu L, Carty CL, Franceschini N, Hindorff LA, Cole SA, Bůzková P, Schumacher FR, Eaton CB, Goodloe RJ, Duggan DJ, et al. No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population. Hum Genet. 2013 ;132(12):1427-31.
Matise TC, Ambite JLuis, Buyske S, Carlson CS, Cole SA, Crawford DC, Haiman CA, Heiss G, Kooperberg C, Le Marchand L, et al. The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol. 2011 ;174(7):849-59.
Kraja AT, Cook JP, Warren HR, Surendran P, Liu C, Evangelou E, Manning AK, Grarup N, Drenos F, Sim X, et al. New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals. Circ Cardiovasc Genet. 2017 ;10(5).
Kurniansyah N, Goodman MO, Kelly TN, Elfassy T, Wiggins KL, Bis JC, Guo X, Palmas W, Taylor KD, Lin HJ, et al. A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood. Nat Commun. 2022 ;13(1):3549.
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.
Noordam R, Bos MM, Wang H, Winkler TW, Bentley AR, Kilpeläinen TO, de Vries PS, Sung YJu, Schwander K, Cade BE, et al. Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. Nat Commun. 2019 ;10(1):5121.
Ntalla I, Weng L-C, Cartwright JH, Hall AWeber, Sveinbjornsson G, Tucker NR, Choi SHoan, Chaffin MD, Roselli C, Barnes MR, et al. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nat Commun. 2020 ;11(1):2542.
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 .
Bentley AR, Sung YJ, Brown MR, Winkler TW, Kraja AT, Ntalla I, Schwander K, Chasman DI, Lim E, Deng X, et al. Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. Nat Genet. 2019 ;51(4):636-648.
Wang H, Noordam R, Cade BE, Schwander K, Winkler TW, Lee J, Sung YJu, Bentley AR, Manning AK, Aschard H, et al. Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. Mol Psychiatry. 2021 .
de Vries PS, Brown MR, Bentley AR, Sung YJ, Winkler TW, Ntalla I, Schwander K, Kraja AT, Guo X, Franceschini N, et al. Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. Am J Epidemiol. 2019 .
Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese A-K, van der Laan SW, Gretarsdottir S, et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2018 ;50(4):524-537.
Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese A-K, van der Laan SW, Gretarsdottir S, et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2018 ;50(4):524-537.
Sun D, Richard M, Musani SK, Sung YJu, Winkler TW, Schwander K, Chai JFang, Guo X, Kilpeläinen TO, Vojinovic D, et al. Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG Adv. 2021 ;2(1).

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