Search Results - "Backman, Joshua"

Exome sequencing and analysis of 454,787 UK Biobank participants by Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

“…A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here…”
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Computationally efficient whole-genome regression for quantitative and binary traits by Mbatchou, Joelle, Barnard, Leland, Backman, Joshua, Marcketta, Anthony, Kosmicki, Jack A., Ziyatdinov, Andrey, Benner, Christian, O’Dushlaine, Colm, Barber, Mathew, Boutkov, Boris, Habegger, Lukas, Ferreira, Manuel, Baras, Aris, Reid, Jeffrey, Abecasis, Goncalo, Maxwell, Evan, Marchini, Jonathan

“…Genome-wide association analysis of cohorts with thousands of phenotypes is computationally expensive, particularly when accounting for sample relatedness or…”
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank by Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris

“…The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around…”
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Biobank-driven genomic discovery yields new insight into atrial fibrillation biology by Nielsen, Jonas B., Thorolfsdottir, Rosa B., Fritsche, Lars G., Zhou, Wei, Skov, Morten W., Graham, Sarah E., Herron, Todd J., McCarthy, Shane, Schmidt, Ellen M., Sveinbjornsson, Gardar, Surakka, Ida, Mathis, Michael R., Yamazaki, Masatoshi, Crawford, Ryan D., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Holmen, Oddgeir L., Lin, Maoxuan, Wolford, Brooke N., Dey, Rounak, Dalen, Håvard, Sulem, Patrick, Chung, Jonathan H., Backman, Joshua D., Arnar, David O., Thorsteinsdottir, Unnur, Baras, Aris, O’Dushlaine, Colm, Holst, Anders G., Wen, Xiaoquan, Hornsby, Whitney, Dewey, Frederick E., Boehnke, Michael, Kheterpal, Sachin, Mukherjee, Bhramar, Lee, Seunggeun, Kang, Hyun M., Holm, Hilma, Kitzman, Jacob, Shavit, Jordan A., Jalife, José, Brummett, Chad M., Teslovich, Tanya M., Carey, David J., Gudbjartsson, Daniel F., Stefansson, Kari, Abecasis, Gonçalo R., Hveem, Kristian, Willer, Cristen J.

“…To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000…”
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Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction by Fisch, Adam S, Yerges-Armstrong, Laura M, Backman, Joshua D, Wang, Hong, Donnelly, Patrick, Ryan, Kathleen A, Parihar, Ankita, Pavlovich, Mary A, Mitchell, Braxton D, O'Connell, Jeffrey R, Herzog, William, Harman, Christopher R, Wren, Jonathan D, Lewis, Joshua P

“…Platelet Endothelial Aggregation Receptor 1 (PEAR1) is a newly identified membrane protein reported to be involved in multiple vascular and thrombotic…”
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Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium by Verma, Shefali Setia, Bergmeijer, Thomas O., Gong, Li, Reny, Jean‐Luc, Lewis, Joshua P., Mitchell, Braxton D., Alexopoulos, Dimitrios, Aradi, Daniel, Altman, Russ B., Bliden, Kevin, Bradford, Yuki, Campo, Gianluca, Chang, Kiyuk, Cleator, John H., Déry, Jean‐Pierre, Dridi, Nadia P., Fernandez‐Cadenas, Israel, Fontana, Pierre, Gawaz, Meinrad, Geisler, Tobias, Gensini, Gian Franco, Giusti, Betti, Gurbel, Paul A., Hochholzer, Willibald, Holmvang, Lene, Kim, Eun‐Young, Kim, Ho‐Sook, Marcucci, Rossella, Montaner, Joan, Backman, Joshua D., Pakyz, Ruth E., Roden, Dan M., Schaeffeler, Elke, Schwab, Matthias, Shin, Jae Gook, Siller‐Matula, Jolanta M., ten Berg, Jurriën M., Trenk, Dietmar, Valgimigli, Marco, Wallace, John, Wen, Ming‐Shien, Kubo, Michiaki, Lee, Ming Ta Michael, Whaley, Ryan, Winter, Stefan, Klein, Teri E., Shuldiner, Alan R., Ritchie, Marylyn D.

“…Antiplatelet response to clopidogrel shows wide variation, and poor response is correlated with adverse clinical outcomes. CYP2C19 loss‐of‐function alleles…”
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Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals by Gao, Chuan, Marcketta, Anthony, Backman, Joshua D., O'Dushlaine, Colm, Staples, Jeffrey, Ferreira, Manuel Allen Revez, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Mirshahi, Tooraj, Regeneron Genetics Center, Geisinger Regeneron Discovehr Collaboration, Baras, Aris, Abecasis, Gonçalo, Shuldiner, Alan R., Van Hout, Cristopher V., McCarthy, Shane

“…Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are biomarkers for liver health. Here we report the largest genome‐wide association…”
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Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation by Chen, Ming-Huei, Yanek, Lisa R., Backman, Joshua D., Eicher, John D., Huffman, Jennifer E., Ben-Shlomo, Yoav, Beswick, Andrew D., Yerges-Armstrong, Laura M., Shuldiner, Alan R., O'Connell, Jeffrey R., Mathias, Rasika A., Becker, Diane M., Becker, Lewis C., Lewis, Joshua P., Johnson, Andrew D., Faraday, Nauder

“…Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of…”
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Genome-wide analysis of clopidogrel active metabolite levels identifies novel variants that influence antiplatelet response by Backman, Joshua D, O’Connell, Jeffrey R, Tanner, Keith, Peer, Cody J, Figg, William D, Spencer, Shawn D, Mitchell, Braxton D, Shuldiner, Alan R, Yerges-Armstrong, Laura M, Horenstein, Richard B, Lewis, Joshua P

“…Clopidogrel is one of the most commonly used therapeutics for the secondary prevention of cardiovascular events in patients with acute coronary syndromes…”
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From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases by Tise, Christina G, Perry, James A, Anforth, Leslie E, Pavlovich, Mary A, Backman, Joshua D, Ryan, Kathleen A, Lewis, Joshua P, O'Connell, Jeffrey R, Yerges-Armstrong, Laura M, Shuldiner, Alan R

“…Using genomic applications to glean insights into human biology, we systematically searched for nonsense single nucleotide variants (SNVs) that are rare in the…”
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Effect of Two Lipoprotein (a)-Associated Genetic Variants on Plasminogen Levels and Fibrinolysis by Wang, Hong, Hong, Chan E, Lewis, Joshua P, Zhu, Yanbei, Wang, Xing, Chu, Xin, Backman, Joshua, Hu, Ziying, Yang, Peixin, Still, Christopher D, Gerhard, Glenn S, Fu, Mao

“…Two genetic variants (rs3798220 and rs10455872) in the apolipoprotein (a) gene ( ) have been implicated in cardiovascular disease (CVD), presumably through…”
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Joint testing of rare variant burden scores using non-negative least squares by Ziyatdinov, Andrey, Mbatchou, Joelle, Marcketta, Anthony, Backman, Joshua, Gaynor, Sheila, Zou, Yuxin, Joseph, Tyler, Geraghty, Benjamin, Herman, Joseph, Watanabe, Kyoko, Ghosh, Arkopravo, Kosmicki, Jack, Locke, Adam, Thornton, Timothy, Kang, Hyun Min, Ferreira, Manuel, Baras, Aris, Abecasis, Goncalo, Marchini, Jonathan

“…Gene-based burden tests are a popular and powerful approach for analysis of exome-wide association studies. These approaches combine sets of variants within a…”
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Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank by Gaynor, Sheila M., Joseph, Tyler, Bai, Xiaodong, Zou, Yuxin, Boutkov, Boris, Maxwell, Evan K., Delaneau, Olivier, Hofmeister, Robin J., Krasheninina, Olga, Balasubramanian, Suganthi, Marcketta, Anthony, Backman, Joshua, Reid, Jeffrey G., Overton, John D., Lotta, Luca A., Marchini, Jonathan, Salerno, William J., Baras, Aris, Abecasis, Goncalo R., Thornton, Timothy A.

“…Whole-genome sequencing (WGS), whole-exome sequencing (WES) and array genotyping with imputation (IMP) are common strategies for assessing genetic variation…”
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Pharmacogenomic polygenic response score predicts ischaemic events and cardiovascular mortality in clopidogrel-treated patients by Lewis, Joshua P, Backman, Joshua D, Reny, Jean-Luc, Bergmeijer, Thomas O, Mitchell, Braxton D, Ritchie, Marylyn D, Déry, Jean-Pierre, Pakyz, Ruth E, Gong, Li, Ryan, Kathleen, Kim, Eun-Young, Aradi, Daniel, Fernandez-Cadenas, Israel, Lee, Ming Ta Michael, Whaley, Ryan M, Montaner, Joan, Gensini, Gian Franco, Cleator, John H, Chang, Kiyuk, Holmvang, Lene, Hochholzer, Willibald, Roden, Dan M, Winter, Stefan, Altman, Russ B, Alexopoulos, Dimitrios, Kim, Ho-Sook, Gawaz, Meinrad, Bliden, Kevin P, Valgimigli, Marco, Marcucci, Rossella, Campo, Gianluca, Schaeffeler, Elke, Dridi, Nadia P, Wen, Ming-Shien, Shin, Jae Gook, Fontana, Pierre, Giusti, Betti, Geisler, Tobias, Kubo, Michiaki, Trenk, Dietmar, Siller-Matula, Jolanta M, ten Berg, Jurriën M, Gurbel, Paul A, Schwab, Matthias, Klein, Teri E, Shuldiner, Alan R

“…Abstract Aims  Clopidogrel is prescribed for the prevention of atherothrombotic events. While investigations have identified genetic determinants of…”
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Abstract P392: Exome Sequencing From Extreme Responders to Aspirin Identifies a Novel Variant Associated With Platelet Aggregation by Backman, Joshua, Ning, Baitang, Lou, Wensheng, Perry, James, Shi, Leming, Shuldiner, Alan, Yerges-Armstrong, Laura

“…Abstract only Platelet dysregulation is integral in the formation of thrombi, and abnormal thrombus formation may ultimately lead to myocardial infarctions or…”
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Abstract 32: Analysis of Serum Clopidogrel Active Metabolite Concentration Identifies Novel Genetic Variants Associated With Clopidogrel Pharmacokinetics by Backman, Joshua D, Lewis, Joshua P, Horenstein, Richard B, Pacanowski, Michael A, Figg, William D, Shuldiner, Alan R, O'Connell, Jeffrey R, Yerges-Armstrong, Laura M

“…Abstract only Clopidogrel with aspirin is standard of care for the secondary prevention of ischemic events in patients with acute coronary syndromes. However,…”
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Novel Discovery and Functional Characterization of Key Genetic Variants that Influence the Pharmacogenomics of Anti-Platelet Therapy by Backman, Joshua D

“…Coronary artery disease (CAD) is among the leading causes of death in the United States and worldwide. The most commonly prescribed treatment for the secondary…”
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Familial Aggregation of Tobacco Use Behaviors Among Amish Men by Nugent, Katie L., Million-Mrkva, Amber, Backman, Joshua, Stephens, Sarah H., Reed, Robert M., Kochunov, Peter, Pollin, Toni I., Shuldiner, Alan R., Mitchell, Braxton D., Hong, L. Elliot

“…Tobacco use is a complex behavior. The Old Order Amish community offers unique advantages for the study of tobacco use because of homogenous ancestral…”
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Pharmacogenomic Polygenic Response Score Predicts Ischemic Events and Cardiovascular Mortality in Clopidogrel-Treated Patients by Lewis, Joshua P, Backman, Joshua D, Reny, Jean-Luc, Bergmeijer, Thomas O, Mitchell, Braxton D, Ritchie, Marylyn D, Déry, Jean-Pierre, Pakyz, Ruth E, Gong, Li, Ryan, Kathleen, Kim, Eun-Young, Aradi, Daniel, Fernandez-Cadenas, Israel, Lee, Ming Ta Michael, Whaley, Ryan M, Montaner, Joan, Gensini, Gian Franco, Cleator, John H, Chang, Kiyuk, Holmvang, Lene, Hochholzer, Willibald, Roden, Dan M, Winter, Stefan, Altman, Russ, Alexopoulos, Dimitrios, Kim, Ho-Sook, Gawaz, Meinrad, Bliden, Kevin, Valgimigli, Marco, Marcucci, Rossella, Campo, Gianluca, Schaeffeler, Elke, Dridi, Nadia P, Wen, Ming-Shien, Shin, Jae Gook, Fontana, Pierre, Giusti, Betti, Geisler, Tobias, Kubo, Michiaki, Trenk, Dietmar, Siller-Matula, Jolanta M, Ten Berg, Jurriën M, Gurbel, Paul A, Schwab, Matthias, Klein, Teri E, Shuldiner, Alan R

“…Clopidogrel is prescribed for the prevention of atherothrombotic events. While investigations have identified genetic determinants of inter-individual…”
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Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction: e0138795 by Fisch, Adam S, Yerges-Armstrong, Laura M, Backman, Joshua D, Wang, Hong, Donnelly, Patrick, Ryan, Kathleen A, Parihar, Ankita, Pavlovich, Mary A, Mitchell, Braxton D, O'Connell, Jeffrey R

“…Platelet Endothelial Aggregation Receptor 1 (PEAR1) is a newly identified membrane protein reported to be involved in multiple vascular and thrombotic…”
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