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ARIC Publications

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Journal Article
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.
Rosenthal EA, Makaryan V, Burt AA, et al. "Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project." Genet Epidemiol. 2016;40(6):470-4.
Johnsen JM, Auer PL, Morrison AC, et al. "Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project." Blood. 2013;122(4):590-7.
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.
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.
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.
Yazdani A, Yazdani A, Liu X. "Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis." Genet Epidemiol. 2016;40(6):486-91.
Rosenthal EA, Ranchalis J, Crosslin DR, et al. "Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia." Am J Hum Genet. 2013;93(6):1035-45.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
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.
Yu B, Li AH, Metcalf GA, et al. "Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.
Floyd JS, Bloch KM, Brody JA, et al. "Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing." PLoS One. 2019;14(6):e0218115.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.
Wei P, Cao Y, Zhang Y, Xu Z, Kwak I-Y, Boerwinkle E. "On Robust Association Testing for Quantitative Traits and Rare Variants." G3 (Bethesda). 2016;6(12):3941-3950.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
Yu B, de Vries PS, Metcalf GA, et al. "Whole genome sequence analysis of serum amino acid levels." Genome Biol. 2016;17(1):237.