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

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In silico prediction of splice-altering single nucleotide variants in the human genome von Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming

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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

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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, Thomas H., Ballantyne, Christie M., Boerwinkle, Eric A., Rosamond, Wayne D., Heiss, Gerardo

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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease von Cohen, Jonathan C, Hobbs, Helen H, Romeo, Stefano, Kozlitina, Julia, Xing, Chao, Pertsemlidis, Alexander, Cox, David, Pennacchio, Len A, Boerwinkle, Eric

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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

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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

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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

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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., MD, de Simone, Giovanni, MD, Arnett, Donna K., PhD, Best, Lyle G., MD, Boerwinkle, Eric, PhD, Howard, Barbara V., PhD, Kitzman, Dalane, MD, Lee, Elisa T., PhD, Mosley, Thomas H., PhD, Weder, Alan, MD, Roman, Mary J., MD

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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.

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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

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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

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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

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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

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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.

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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease von Stitziel, Nathan O., MD, PhD, Khera, Amit V., MD, Wang, Xiao, PhD, Bierhals, Andrew J., MD, MPH, Vourakis, A. Christina, BA, Sperry, Alexandra E., BA, Natarajan, Pradeep, MD, Klarin, Derek, MD, Emdin, Connor A., DPhil, Zekavat, Seyedeh M., BSc, Nomura, Akihiro, MD, Erdmann, Jeanette, PhD, Schunkert, Heribert, MD, Samani, Nilesh J., MD, Kraus, William E., MD, Shah, Svati H., MD, MPH, Yu, Bing, PhD, Boerwinkle, Eric, PhD, Rader, Daniel J., MD, Gupta, Namrata, PhD, Frossard, Philippe M., PhD, Rasheed, Asif, MBBS, Danesh, John, DPhil, Lander, Eric S., PhD, Gabriel, Stacey, PhD, Saleheen, Danish, MBBS, PhD, Musunuru, Kiran, MD, PhD, MPH, Kathiresan, Sekar, MD

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Identification of a Urate Transporter, ABCG2, with a Common Functional Polymorphism Causing Gout von Woodward, Owen M., Köttgen, Anna, Coresh, Josef, Boerwinkle, Eric, Guggino, William B., Köttgen, Michael, Burg, Maurice B.

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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

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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, Boerwinkle, Eric, Arking, Dan E.

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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes von Tennessen, Jacob A., Bigham, Abigail W., O'Connor, Timothy D., Fu, Wenqing, Kenny, Eimear E., Gravel, Simon, McGee, Sean, Do, Ron, Liu, Xiaoming, Jun, Goo, Kang, Hyun Min, Jordan, Daniel, Leal, Suzanne M., Gabriel, Stacey, Rieder, Mark J., Abecasis, Goncalo, Altshuler, David, Nickerson, Deborah A., Boerwinkle, Eric, Sunyaev, Shamil, Bustamante, Carlos D., Bamshad, Michael J., Akey, Joshua M.

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