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ARIC Publications

Filters: Keyword is Sequence Analysis, DNA  [Clear All Filters]
2020
Lin D-Y, Zeng D, Couper D. "A general framework for integrative analysis of incomplete multiomics data." Genet Epidemiol. 2020;44(7):646-664.
2019
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.
2018
Blue EE, Bis JC, Dorschner MO, et al. "Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project." Dement Geriatr Cogn Disord. 2018;45(1-2):1-17.
de Haan HG, A Vlieg vanHylckama, Lotta LA, et al. "Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes." J Thromb Haemost. 2018;16(12):2432-2441.
2016
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.
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.
White J, Beck CR, Harel T, et al. "POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
Kapoor A, Bakshy K, Xu L, et al. "Rare coding TTN variants are associated with electrocardiographic QT interval in the general population." Sci Rep. 2016;6:28356.
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.
Farlow JL, Robak LA, Hetrick K, et al. "Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
2015
Bainbridge MN, Davis EE, Choi W-Y, et al. "Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction." Circ Cardiovasc Genet. 2015;8(4):544-52.
Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.
2014
London SJ, Gao W, Gharib SA, et al. "ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):350-8.
Cornes BK, Brody JA, Nikpoor N, et al. "Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):374-382.
Peloso GM, Auer PL, Bis JC, et al. "Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks." Am J Hum Genet. 2014;94(2):223-32.
Bis JC, Destefano A, Liu X, et al. "Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium." PLoS One. 2014;9(6):e99798.
Boerwinkle E. "Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):332-4.
Guan W, Steffen BT, Lemaitre RN, et al. "Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium." Circ Cardiovasc Genet. 2014;7(3):321-331.
Crosby J, Peloso GM, Auer PL, et al. "Loss-of-function mutations in APOC3, triglycerides, and coronary disease." N Engl J Med. 2014;371(1):22-31.
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.
Liu C-T, Young KL, Brody JA, et al. "Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):344-9.
Bis JC, White CC, Franceschini N, et al. "Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):359-64.
Magnani JW, Brody JA, Prins BP, et al. "Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium." Circ Cardiovasc Genet. 2014;7(3):365-73.
Lin H, Wang M, Brody JA, et al. "Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):335-43.
Logsdon BA, Dai JY, Auer PL, et al. "A variational Bayes discrete mixture test for rare variant association." Genet Epidemiol. 2014;38(1):21-30.
Lange LA, Hu Y, Zhang H, et al. "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet. 2014;94(2):233-45.