Suchergebnisse - "Boerwinkle, Eric"

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs von Liu, Xiaoming, Wu, Chunlei, Li, Chang, Boerwinkle, Eric

“… ABSTRACT The purpose of the dbNSFP is to provide a one‐stop resource for functional predictions and annotations for human nonsynonymous single‐nucleotide …”
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In silico prediction of splice-altering single nucleotide variants in the human genome von Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming

“… In silico tools have been developed to predict variants that may have an impact on pre-mRNA splicing. The major limitation of the application of these tools to …”
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ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies von Liu, Yaowu, Chen, Sixing, Li, Zilin, Morrison, Alanna C, Boerwinkle, Eric, Lin, Xihong

“… Set-based analysis that jointly tests the association of variants in a group has emerged as a popular tool for analyzing rare and low-frequency variants in …”
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The ARIC (Atherosclerosis Risk In Communities) Study: JACC Focus Seminar 3/8 von Wright, Jacqueline D, Folsom, Aaron R, Coresh, Josef, Sharrett, A Richey, Couper, David, Wagenknecht, Lynne E, Mosley, Jr, Thomas H, Ballantyne, Christie M, Boerwinkle, Eric A, Rosamond, Wayne D, Heiss, Gerardo

“… ARIC (Atherosclerosis Risk In Communities) initiated community-based surveillance in 1987 for myocardial infarction and coronary heart disease (CHD) incidence …”
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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease von Romeo, Stefano, Kozlitina, Julia, Xing, Chao, Pertsemlidis, Alexander, Cox, David, Pennacchio, Len A, Boerwinkle, Eric, Cohen, Jonathan C, Hobbs, Helen H

“… Helen Hobbs and colleagues report an association between coding variation in PNPLA3 and susceptibility to nonalcoholic fatty liver disease. The associated …”
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American Heart Association's Life's Simple 7: Lifestyle Recommendations, Polygenic Risk, and Lifetime Risk of Coronary Heart Disease von Hasbani, Natalie R, Ligthart, Symen, Brown, Michael R, Heath, Adam S, Bebo, Allison, Ashley, Kellan E, Boerwinkle, Eric, Morrison, Alanna C, Folsom, Aaron R, Aguilar, David, de Vries, Paul S

“… Understanding the effect of lifestyle and genetic risk on the lifetime risk of coronary heart disease (CHD) is important to improving public health …”
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In silico tools for splicing defect prediction: a survey from the viewpoint of end users von Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming

“… RNA splicing is the process during which introns are excised and exons are spliced. The precise recognition of splicing signals is critical to this process, …”
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A bidirectional Mendelian randomization study supports causal effects of kidney function on blood pressure von Yu, Zhi, Coresh, Josef, Qi, Guanghao, Grams, Morgan, Boerwinkle, Eric, Snieder, Harold, Teumer, Alexander, Pattaro, Cristian, Köttgen, Anna, Chatterjee, Nilanjan, Tin, Adrienne

“… Blood pressure and kidney function have a bidirectional relation. Hypertension has long been considered as a risk factor for kidney function decline. However, …”
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Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease von Khera, Amit V, Emdin, Connor A, Drake, Isabel, Natarajan, Pradeep, Bick, Alexander G, Cook, Nancy R, Chasman, Daniel I, Baber, Usman, Mehran, Roxana, Rader, Daniel J, Fuster, Valentin, Boerwinkle, Eric, Melander, Olle, Orho-Melander, Marju, Ridker, Paul M, Kathiresan, Sekar

“… Using a polygenic score of DNA sequence polymorphisms, the authors of this study quantified genetic risk and assessed four healthy lifestyle factors. Among …”
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Normal Limits in Relation to Age, Body Size and Gender of Two-Dimensional Echocardiographic Aortic Root Dimensions in Persons ≥15 Years of Age von Devereux, Richard B., de Simone, Giovanni, Arnett, Donna K., Best, Lyle G., Boerwinkle, Eric, Howard, Barbara V., Kitzman, Dalane, Lee, Elisa T., Mosley, Thomas H., Weder, Alan, Roman, Mary J.

“… Nomograms to predict normal aortic root diameter for body surface area (BSA) in broad ranges of age have been widely used but are limited by lack of …”
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Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans von Romeo, Stefano, Yin, Wu, Kozlitina, Julia, Pennacchio, Len A., Boerwinkle, Eric, Hobbs, Helen H., Cohen, Jonathan C.

“… The relative activity of lipoprotein lipase (LPL) in different tissues controls the partitioning of lipoprotein-derived fatty acids between sites of fat …”
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High-Sensitivity Troponin I and Incident Coronary Events, Stroke, Heart Failure Hospitalization, and Mortality in the ARIC Study von Jia, Xiaoming, Sun, Wensheng, Hoogeveen, Ron C, Nambi, Vijay, Matsushita, Kunihiro, Folsom, Aaron R, Heiss, Gerardo, Couper, David J, Solomon, Scott D, Boerwinkle, Eric, Shah, Amil, Selvin, Elizabeth, de Lemos, James A, Ballantyne, Christie M

“… We assessed whether plasma troponin I measured by a high-sensitivity assay (hs-TnI) is associated with incident cardiovascular disease (CVD) and mortality in a …”
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Molecular findings among patients referred for clinical whole-exome sequencing von Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

“… Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. To perform clinical whole-exome …”
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CD163+ macrophages promote angiogenesis and vascular permeability accompanied by inflammation in atherosclerosis von Guo, Liang, Akahori, Hirokuni, Harari, Emanuel, Smith, Samantha L., Polavarapu, Rohini, Karmali, Vinit, Otsuka, Fumiyuki, Gannon, Rachel L., Braumann, Ryan E., Dickinson, Megan H., Gupta, Anuj, Jenkins, Audrey L., Lipinski, Michael J., Kim, Johoon, Chhour, Peter, de Vries, Paul S., Jinnouchi, Hiroyuki, Kutys, Robert, Mori, Hiroyoshi, Kutyna, Matthew D., Torii, Sho, Sakamoto, Atsushi, Choi, Cheol Ung, Cheng, Qi, Grove, Megan L., Sawan, Mariem A., Zhang, Yin, Cao, Yihai, Kolodgie, Frank D., Cormode, David P., Arking, Dan E., Boerwinkle, Eric, Morrison, Alanna C., Erdmann, Jeanette, Sotoodehnia, Nona, Virmani, Renu, Finn, Aloke V.

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Atypical angiopoietin-like protein that regulates ANGPTL3 von Quagliarini, Fabiana, Wang, Yan, Kozlitina, Julia, Grishin, Nick V, Hyde, Rhonda, Boerwinkle, Eric, Valenzuela, David M, Murphy, Andrew J, Cohen, Jonathan C, Hobbs, Helen H

“… Angiopoietin-like proteins (ANGPTLs) play major roles in the trafficking and metabolism of lipids. Inactivation of ANGPTL3, a gene located in an intron of …”
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Clan genomics and the complex architecture of human disease von Lupski, James R, Belmont, John W, Boerwinkle, Eric, Gibbs, Richard A

“… Human diseases are caused by alleles that encompass the full range of variant types, from single-nucleotide changes to copy-number variants, and these …”
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation von Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R

“… Of over 7000 patients referred to a diagnostic laboratory, 28% had diagnoses based on DNA sequencing, 5% of whom had two or more diagnoses. Their phenotypes …”
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Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease von Saeed, Anum, Feofanova, Elena V, Yu, Bing, Sun, Wensheng, Virani, Salim S, Nambi, Vijay, Coresh, Josef, Guild, Cameron S, Boerwinkle, Eric, Ballantyne, Christie M, Hoogeveen, Ron C

“… Hypertriglyceridemia is associated with increased remnant-like particle cholesterol (RLP-C) and triglycerides in low-density lipoprotein (LDL-TG). Recent …”
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Evaluation of mitochondrial DNA copy number estimation techniques von Longchamps, Ryan J., Castellani, Christina A., Yang, Stephanie Y., Newcomb, Charles E., Sumpter, Jason A., Lane, John, Grove, Megan L., Guallar, Eliseo, Pankratz, Nathan, Taylor, Kent D., Rotter, Jerome I., Boerwinkle, Eric, Arking, Dan E.

“… Mitochondrial DNA copy number (mtDNA-CN), a measure of the number of mitochondrial genomes per cell, is a minimally invasive proxy measure for mitochondrial …”
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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease von Stitziel, Nathan O, Khera, Amit V, Wang, Xiao, Bierhals, Andrew J, Vourakis, A Christina, Sperry, Alexandra E, Natarajan, Pradeep, Klarin, Derek, Emdin, Connor A, Zekavat, Seyedeh M, Nomura, Akihiro, Erdmann, Jeanette, Schunkert, Heribert, Samani, Nilesh J, Kraus, William E, Shah, Svati H, Yu, Bing, Boerwinkle, Eric, Rader, Daniel J, Gupta, Namrata, Frossard, Philippe M, Rasheed, Asif, Danesh, John, Lander, Eric S, Gabriel, Stacey, Saleheen, Danish, Musunuru, Kiran, Kathiresan, Sekar

“… Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that …”
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