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ARIC Publications

Filters: Keyword is Molecular Sequence Annotation  [Clear All Filters]
Journal Article
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.
Liu X, Wu C, Li C. "dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs." Hum Mutat. 2016;37(3):235-41.
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.
Li X, Li Z, Zhou H, et al. "Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale." Nat Genet. 2020;52(9):969-983.
Gaulton KJ, Ferreira T, Lee Y, et al. "Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci." Nat Genet. 2015;47(12):1415-25.
Matteini AM, Tanaka T, Karasik D, et al. "GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium." Aging Cell. 2016;15(5):792-800.
Liu C-T, Buchkovich ML, Winkler TW, et al. "Multi-ethnic fine-mapping of 14 central adiposity loci." Hum Mol Genet. 2014;23(17):4738-44.
Hindy G, Dornbos P, Chaffin MD, 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.
Liu C-T, Raghavan S, Maruthur N, et al. "Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin." Am J Hum Genet. 2016;99(1):56-75.
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.