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2021

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 .

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.

Stilp AM, Emery LS, Broome JG, Buth EJ, Khan AT, Laurie CA, Wang FFei, Wong Q, Chen D, D'Augustine CM, et al. A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. Am J Epidemiol. 2021 .

Lin BM, Grinde KE, Brody JA, Breeze CE, Raffield LM, Mychaleckyj JC, Thornton TA, Perry JA, Baier LJ, Fuentes Lde Las, et al. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBioMedicine. 2021 ;63:103157.

Little A, Hu Y, Sun Q, Jain D, Broome J, Chen M-H, Thibord F, McHugh C, Surendran P, Blackwell TW, et al. Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative. Hum Mol Genet. 2021 .

Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, et al. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 ;13(1):136.

Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, de Bellefon SMéric, Raffield LM, Chen M-H, et al. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(5):874-893.

Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MPreethi, Blackwell TW, Brody JA, Broome J, Chami N, Chen M-H, et al. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(10):1836-1851.

2022

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.

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.

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.

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.

Halford JL, Morrill VN, Choi SHoan, Jurgens SJ, Melloni G, Marston NA, Weng L-C, Nauffal V, Hall AW, Gunn S, et al. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 ;13(1):5106.

Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, et al. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.

Kelly TN, Sun X, He KY, Brown MR, Taliun SAGagliano, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, et al. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 :101161HYPERTENSIONAHA12219324.

Nauffal V, Morrill VN, Jurgens SJ, Choi SHoan, Hall AW, Weng L-C, Halford JL, Austin-Tse C, Haggerty CM, Harris SL, et al. Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation. 2022 .

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.

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.

Elgart M, Lyons G, Romero-Brufau S, Kurniansyah N, Brody JA, Guo X, Lin HJ, Raffield L, Gao Y, Chen H, et al. Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations. Commun Biol. 2022 ;5(1):856.

Hu X, Qiao D, Kim W, Moll M, Balte PP, Lange LA, Bartz TM, Kumar R, Li X, Yu B, et al. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 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.

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 .

Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, et al. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature. 2022 .

Liang J, Wang H, Cade BE, Kurniansyah N, He KY, Lee J, Sands SA, Brody J, Chen H, Gottlieb DJ, et al. Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 .

Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, et al. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.

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