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2024

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 .

Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 .

Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, et al. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 .

Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett D, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. medRxiv. 2024 .

Mei H, Simino J, Li L, Jiang F, Bis JC, Davies G, W Hill D, Xia C, Gudnason V, Yang Q, et al. Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimers Res Ther. 2024 ;16(1):14.

Alkis T, Luo X, Wall K, Brody J, Bartz T, Chang PP, Norby FL, Hoogeveen RC, Morrison AC, Ballantyne CM, et al. A polygenic risk score of atrial fibrillation improves prediction of lifetime risk for heart failure. ESC Heart Fail. 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.

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.

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 .

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 .

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.

Vlasschaert C, Robinson-Cohen C, Kestenbaum B, Silver SA, Chen J-C, Akwo E, Bhatraju PK, Zhang M-Z, Cao S, Jiang M, et al. Clonal Hematopoiesis of Indeterminate Potential is Associated with Acute Kidney Injury. medRxiv. 2023 .

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 .

Fuentes Lde Las, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJu, Munroe PB, Miller CL, Aschard H, Aslibekyan S, et al. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Front Genet. 2023 ;14:1235337.

Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, et al. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 .

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.

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.

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 .

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 .

Seyerle AA, Laurie CA, Coombes BJ, Jain D, Conomos MP, Brody J, Chen M-H, Gogarten SM, Beutel KM, Gupta N, et al. Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 :e003532.

Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, et al. WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE. medRxiv. 2023 .

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.

Winkler TW, Rasheed H, Teumer A, Gorski M, Rowan BX, Stanzick KJ, Thomas LF, Tin A, Hoppmann A, Chu AY, et al. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. Commun Biol. 2022 ;5(1):580.

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.

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