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ARIC Publications

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Journal Article
Morrison AC, Voorman A, Johnson AD, et al. "Whole-genome sequence-based analysis of high-density lipoprotein cholesterol." Nat Genet. 2013;45(8):899-901.
Yu B, de Vries PS, Metcalf GA, et al. "Whole genome sequence analysis of serum amino acid levels." Genome Biol. 2016;17(1):237.
Liu X, White S, Peng B, et al. "WGSA: an annotation pipeline for human genome sequencing studies." J Med Genet. 2016;53(2):111-2.
Chiang CWK, Liu C-T, Lettre G, et al. "Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms." Genetics. 2012;192(1):253-66.
Voight BF, Scott LJ, Steinthorsdottir V, et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010;42(7):579-89.
Keller MF, Reiner AP, Okada Y, et al. "Trans-ethnic meta-analysis of white blood cell phenotypes." Hum Mol Genet. 2014;23(25):6944-60.
Chen J, Spracklen CN, Marenne G, et al. "The trans-ancestral genomic architecture of glycemic traits." Nat Genet. 2021;53(6):840-860.
Taliun D, Harris DN, Kessler MD, et al. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program." Nature. 2021;590(7845):290-299.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.
Marouli E, Graff M, Medina-Gomez C, et al. "Rare and low-frequency coding variants alter human adult height." Nature. 2017;542(7640):186-190.
Morrison AC, Huang Z, Yu B, et al. "Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits." Am J Hum Genet. 2017;100(2):205-215.
Zhou Z, Yu F, Buchanan A, et al. "Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts." PLoS One. 2014;9(1):e84810.
Seplyarskiy VB, Soldatov RA, Koch E, et al. "Population sequencing data reveal a compendium of mutational processes in the human germ line." Science. 2021;373(6558):1030-1035.
Liu X, Li C. "The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes." J Med Genet. 2017;54(2):134-144.
Tabor HK, Auer PL, Jamal SM, et al. "Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results." Am J Hum Genet. 2014;95(2):183-93.
Shungin D, Winkler TW, Croteau-Chonka DC, et al. "New genetic loci link adipose and insulin biology to body fat distribution." Nature. 2015;518(7538):187-196.
Ganesh SK, Zakai NA, van Rooij FJA, et al. "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium." Nat Genet. 2009;41(11):1191-8.
Evans DM, Brion MJo A, Paternoster L, et al. "Mining the human phenome using allelic scores that index biological intermediates." PLoS Genet. 2013;9(10):e1003919.
Bis JC, Kavousi M, Franceschini N, et al. "Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque." Nat Genet. 2011;43(10):940-7.
van Leeuwen EM, Sabo A, Bis JC, et al. "Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels." J Med Genet. 2016;53(7):441-9.
Liu C, Kraja AT, Smith JA, et al. "Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci." Nat Genet. 2016;48(10):1162-70.
Heid IM, Jackson AU, Randall JC, et al. "Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution." Nat Genet. 2010;42(11):949-60.
Xu J, Bartz TM, Chittoor G, et al. "Meta-analysis across Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium provides evidence for an association of serum vitamin D with pulmonary function." Br J Nutr. 2018;120(10):1159-1170.
Hancock DB, Eijgelsheim M, Wilk JB, et al. "Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function." Nat Genet. 2010;42(1):45-52.
He KY, Li X, Kelly TN, et al. "Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data." Hum Genet. 2019;138(2):199-210.
Taylor KC, Carty CL, Dumitrescu L, et al. "Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study." BMC Genet. 2013;14:33.
Bick AG, Weinstock JS, Nandakumar SK, et al. "Inherited causes of clonal haematopoiesis in 97,691 whole genomes." Nature. 2020;586(7831):763-768.
Duan Q, Liu EYi, Auer PL, et al. "Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics. 2013;29(21):2744-9.
J Smith G, Avery CL, Evans DS, et al. "Impact of ancestry and common genetic variants on QT interval in African Americans." Circ Cardiovasc Genet. 2012;5(6):647-55.
Huang Z, Rustagi N, Veeraraghavan N, et al. "A hybrid computational strategy to address WGS variant analysis in >5000 samples." BMC Bioinformatics. 2016;17(1):361.
Allen HLango, Estrada K, Lettre G, et al. "Hundreds of variants clustered in genomic loci and biological pathways affect human height." Nature. 2010;467(7317):832-8.
Huan T, Joehanes R, Song C, et al. "Genome-wide identification of DNA methylation QTLs in whole blood highlights pathways for cardiovascular disease." Nat Commun. 2019;10(1):4267.
Vojinovic D, Adams HH, Jian X, et al. "Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume." Nat Commun. 2018;9(1):3945.
Hara K, Fujita H, Johnson TA, et al. "Genome-wide association study identifies three novel loci for type 2 diabetes." Hum Mol Genet. 2014;23(1):239-46.
Köttgen A, Kao W HL, Hwang S-J, et al. "Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies." BMC Med Genet. 2008;9:49.
Loth DW, Artigas MSoler, Gharib SA, et al. "Genome-wide association analysis identifies six new loci associated with forced vital capacity." Nat Genet. 2014;46(7):669-77.
Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, et al. "Genome-wide association analysis identifies multiple loci related to resting heart rate." Hum Mol Genet. 2010;19(19):3885-94.
Bressler J, Folsom AR, Couper DJ, Volcik KA, Boerwinkle E. "Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study." Am J Epidemiol. 2010;171(1):14-23.
Sitlani CM, Rice KM, Lumley T, et al. "Generalized estimating equations for genome-wide association studies using longitudinal phenotype data." Stat Med. 2015;34(1):118-30.
Bien SA, Wojcik GL, Hodonsky CJ, et al. "The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE." Annu Rev Genomics Hum Genet. 2019;20:181-200.
Gong J, Schumacher F, Lim U, et al. "Fine Mapping and Identification of BMI Loci in African Americans." Am J Hum Genet. 2013;93(4):661-71.
Tennessen JA, Bigham AW, O'Connor TD, et al. "Evolution and functional impact of rare coding variation from deep sequencing of human exomes." Science. 2012;337(6090):64-9.
Li Z, Li X, Liu Y, et al. "Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies." Am J Hum Genet. 2019;104(5):802-814.
Joshi PK, Esko T, Mattsson H, et al. "Directional dominance on stature and cognition in diverse human populations." Nature. 2015;523(7561):459-462.
Salfati E, Morrison AC, Boerwinkle E. "Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)." PLoS One. 2015;10(7):e0133031.
Natarajan P, Peloso GM, Zekavat SMaryam, et al. "Deep-coverage whole genome sequences and blood lipids among 16,324 individuals." Nat Commun. 2018;9(1):3391.
Kessler MD, Loesch DP, Perry JA, et al. "De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population." Proc Natl Acad Sci U S A. 2020;117(5):2560-2569.
Chanda P, Yuhki N, Li M, et al. "Comprehensive evaluation of imputation performance in African Americans." J Hum Genet. 2012;57(7):411-21.
Nikpay M, Goel A, Won H-H, et al. "A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease." Nat Genet. 2015;47(10):1121-1130.
Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K. "Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies." Hum Mol Genet. 2015;24(8):2125-37.
Sanna S, Jackson AU, Nagaraja R, et al. "Common variants in the GDF5-UQCC region are associated with variation in human height." Nat Genet. 2008;40(2):198-203.
Dehghan A, Köttgen A, Yang Q, et al. "Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study." Lancet. 2008;372(9654):1953-61.
Li AH, Morrison AC, Kovar C, et al. "Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease." Nat Genet. 2015;47(6):640-2.
Cheng C-Y, Reich D, Wong TY, et al. "Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study." PLoS Genet. 2010;6(4):e1000908.
Amendola LM, Dorschner MO, Robertson PD, et al. "Actionable exomic incidental findings in 6503 participants: challenges of variant classification." Genome Res. 2015;25(3):305-15.
Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E. "ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies." Am J Hum Genet. 2019;104(3):410-421.
Gorski M, van der Most PJ, Teumer A, et al. "1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function." Sci Rep. 2017;7:45040.