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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 .

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.

Young WJ, Haessler J, Benjamins J-W, Repetto L, Yao J, Isaacs A, Harper AR, Ramirez J, Garnier S, Van Duijvenboden S, et al. Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease. Nat Commun. 2023 ;14(1):1411.

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.

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 .

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 .

Kwak SHeon, Hernandez-Cancela RB, DiCorpo DA, Condon DE, Merino J, Wu P, Brody JA, Yao J, Guo X, Ahmadizar F, et al. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus. medRxiv. 2023 .

Massera D, Bartz TM, Biggs ML, Sotoodehnia N, Reiner AP, Semba RD, Gottdiener JS, Psaty BM, Owens DS, Kizer JR. Traditional and novel risk factors for incident aortic stenosis in community-dwelling older adults. Heart. 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 .

Jiang M-Z, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FFei, Manansala R, Gogarten SM, Li Z, et al. Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. bioRxiv. 2023 .

2022

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.

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.

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.

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.

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 .

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.

DiCorpo D, Gaynor SM, Russell EM, Westerman KE, Raffield LM, Majarian TD, Wu P, Sarnowski C, Highland HM, Jackson A, et al. Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program. Commun Biol. 2022 ;5(1):756.

Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, et al. Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease. Hum Mol Genet. 2022 .

2021

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.

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