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2025

Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 ;112(2):276-290.

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. Mol Psychiatry. 2025 .

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.

2024

Mack TM, Raddatz MA, Pershad Y, Nachun DC, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Kenny EE, Loos RJF, et al. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate. Nat Aging. 2024 .

Huang Y-J, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min Y-I, et al. The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup. medRxiv. 2024 .

Nagarajan P, Kurniansyah N, Lee J, Gharib SA, Xu Y, Zhang Y, Spitzer B, Faquih T, Zhou H, Boerwinkle E, et al. Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype. medRxiv. 2024 .

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, et al. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. 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. medRxiv. 2024 .

Wang H, Nagarajan P, Winkler T, Bentley A, Miller C, Kraja A, Schwander K, Lee S, Wang W, Brown M, et al. A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations. Res Sq. 2024 .

Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchell BD, Psaty BM, et al. Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Sci Rep. 2024 ;14(1):12436.

Yiallourou S, Baril A-A, Wiedner C, Misialek JR, Kline CE, Harrison S, Cannon E, Yang Q, Bernal R, Bisson A, et al. Sleep macro-architecture and dementia risk in adults: Meta-analysis of 5 cohorts from the Sleep and Dementia Consortium. medRxiv. 2024 .

2023

Weinstock JS, Gopakumar J, Burugula BBharathi, Uddin MMesbah, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, et al. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.

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 .

Kurniansyah N, Goodman MO, Khan AT, Wang J, Feofanova E, Bis JC, Wiggins KL, Huffman JE, Kelly T, Elfassy T, et al. Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups. Nat Commun. 2023 ;14(1):3202.

Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, et al. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.

Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchel BD, Psaty BM, et al. Machine learning models for blood pressure phenotypes combining multiple polygenic risk scores. medRxiv. 2023 .

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.

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 .

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.

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 .

Pase MP, Harrison S, Misialek JR, Kline CE, Cavuoto M, Baril A-A, Yiallourou S, Bisson A, Himali D, Leng Y, et al. Sleep Architecture, Obstructive Sleep Apnea, and Cognitive Function in Adults. JAMA Netw Open. 2023 ;6(7):e2325152.

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 .

Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, et al. Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. medRxiv. 2023 .

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