Computational and statistical approaches to analyzing variants identified by exome sequencing

por Stitziel, Nathan O, Kiezun, Adam, Sunyaev, Shamil
Publicado 2011

Genetic Testing in Evaluating Risk of Anthracycline Cardiomyopathy: Are We There Yet?

por Wong-Siegel, Jeannette R., Kim, Yuri, Stitziel, Nathan O., Javaheri, Ali
Publicado 2023

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

por Olfson, Emily, Cottrell, Catherine E., Davidson, Nicholas O., Gurnett, Christina A., Heusel, Jonathan W., Stitziel, Nathan O., Chen, Li-Shiun, Hartz, Sarah, Nagarajan, Rakesh, Saccone, Nancy L., Bierut, Laura J.
Publicado 2015

Author Correction: SVEP1 is an endogenous ligand for the orphan receptor PEAR1

por Elenbaas, Jared S., Pudupakkam, Upasana, Ashworth, Katrina J., Kang, Chul Joo, Patel, Ved, Santana, Katherine, Jung, In-Hyuk, Lee, Paul C., Burks, Kendall H., Amrute, Junedh M., Mecham, Robert P., Halabi, Carmen M., Alisio, Arturo, Di Paola, Jorge, Stitziel, Nathan O.
Publicado 2023

SVEP1 is an endogenous ligand for the orphan receptor PEAR1

por Elenbaas, Jared S., Pudupakkam, Upasana, Ashworth, Katrina J., Kang, Chul Joo, Patel, Ved, Santana, Katherine, Jung, In-Hyuk, Lee, Paul C., Burks, Kendall H., Amrute, Junedh M., Mecham, Robert P., Halabi, Carmen M., Alisio, Arturo, Di Paola, Jorge, Stitziel, Nathan O.
Publicado 2023

Coronary Artery Disease Risk and Lipidomic Profiles Are Similar in Hyperlipidemias With Family History and Population‐Ascertained Hyperlipidemias

por Rämö, Joel T., Ripatti, Pietari, Tabassum, Rubina, Söderlund, Sanni, Matikainen, Niina, Gerl, Mathias J., Klose, Christian, Surma, Michal A., Stitziel, Nathan O., Havulinna, Aki S., Pirinen, Matti, Salomaa, Veikko, Freimer, Nelson B., Jauhiainen, Matti, Palotie, Aarno, Taskinen, Marja‐Riitta, Simons, Kai, Ripatti, Samuli
Publicado 2019

High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

por Zhang, Xiangyu, Sergin, Ismail, Evans, Trent D., Jeong, Se-Jin, Rodriguez-Velez, Astrid, Kapoor, Divya, Chen, Sunny, Song, Eric, Holloway, Karyn B., Crowley, Jan R., Epelman, Slava, Weihl, Conrad C., Diwan, Abhinav, Fan, Daping, Mittendorfer, Bettina, Stitziel, Nathan O., Schilling, Joel D., Lodhi, Irfan J., Razani, Babak
Publicado 2020

Mapping and characterization of structural variation in 17,795 human genomes

por Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.
Publicado 2020

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

por Ganel, Liron, Chen, Lei, Christ, Ryan, Vangipurapu, Jagadish, Young, Erica, Das, Indraniel, Kanchi, Krishna, Larson, David, Regier, Allison, Abel, Haley, Kang, Chul Joo, Scott, Alexandra, Havulinna, Aki, Chiang, Charleston W. K., Service, Susan, Freimer, Nelson, Palotie, Aarno, Ripatti, Samuli, Kuusisto, Johanna, Boehnke, Michael, Laakso, Markku, Locke, Adam, Stitziel, Nathan O., Hall, Ira M.
Publicado 2021

Targeting Immune-Fibroblast Crosstalk in Myocardial Infarction and Cardiac Fibrosis

por Amrute, Junedh M., Luo, Xin, Penna, Vinay, Bredemeyer, Andrea, Yamawaki, Tracy, Yang, Steven, Kadyrov, Farid, Heo, Gyu-Seong, Shi, Sally Yu, Lee, Paul, Koenig, Andrew L., Kuppe, Christoph, Jones, Cameran, Kopecky, Benjamin, Hayat, Sikander, Ma, Pan, Terada, Yuriko, Fu, Angela, Furtado, Milena, Kreisel, Daniel, Stitziel, Nathan O., Li, Chi-Ming, Kramann, Rafael, Liu, Yongjian, Ason, Brandon, Lavine, Kory J.
Publicado 2023

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

por Tabassum, Rubina, Rämö, Joel T., Ripatti, Pietari, Koskela, Jukka T., Kurki, Mitja, Karjalainen, Juha, Palta, Priit, Hassan, Shabbeer, Nunez-Fontarnau, Javier, Kiiskinen, Tuomo T. J., Söderlund, Sanni, Matikainen, Niina, Gerl, Mathias J., Surma, Michal A., Klose, Christian, Stitziel, Nathan O., Laivuori, Hannele, Havulinna, Aki S., Service, Susan K., Salomaa, Veikko, Pirinen, Matti, Jauhiainen, Matti, Daly, Mark J., Freimer, Nelson B., Palotie, Aarno, Taskinen, Marja-Riitta, Simons, Kai, Ripatti, Samuli
Publicado 2019

Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk

por Yin, Xianyong, Bose, Debraj, Kwon, Annie, Hanks, Sarah C., Jackson, Anne U., Stringham, Heather M., Welch, Ryan, Oravilahti, Anniina, Fernandes Silva, Lilian, Locke, Adam E., Fuchsberger, Christian, Service, Susan K., Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Morrison, Jean, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Collins, Francis S., Mohlke, Karen L., Scott, Laura J., Fauman, Eric B., Burant, Charles, Boehnke, Michael, Laakso, Markku, Wen, Xiaoquan
Publicado 2022

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

por Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U., VandeHaar, Peter, Locke, Adam E., Fuchsberger, Christian, Stringham, Heather M., Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K., Zhang, Daiwei, Hector, Emily C., Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Wagner, Gregory R., Kang, Jian, Morrison, Jean, Burant, Charles F., Collins, Francis S., Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Mohlke, Karen L., Scott, Laura J., Wen, Xiaoquan, Fauman, Eric B., Laakso, Markku, Boehnke, Michael
Publicado 2022

Exome sequencing of Finnish isolates enhances rare-variant association power

por Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
Publicado 2019

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

por Haghighi, Alireza, Krier, Joel B., Toth-Petroczy, Agnes, Cassa, Christopher A., Frank, Natasha Y., Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C., Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A., Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J., Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B., Pantazi, Angeliki, Chopra, Sameer S., Leshchiner, Ignaty, Stitziel, Nathan O., Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A., Liao, Eric, Stoler, Joan M., Nowak, Catherine B., Sanchez-Lara, Pedro A., Klein, Ophir D., Perry, Hazel, Patsopoulos, Nikolaos A., Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C., Seidman, Christine E., MacRae, Calum A., Sunyaev, Shamil R., Maas, Richard L., Vuzman, Dana
Publicado 2018

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

por Lim, Elaine T., Würtz, Peter, Havulinna, Aki S., Palta, Priit, Tukiainen, Taru, Rehnström, Karola, Esko, Tõnu, Mägi, Reedik, Inouye, Michael, Lappalainen, Tuuli, Chan, Yingleong, Salem, Rany M., Lek, Monkol, Flannick, Jason, Sim, Xueling, Manning, Alisa, Ladenvall, Claes, Bumpstead, Suzannah, Hämäläinen, Eija, Aalto, Kristiina, Maksimow, Mikael, Salmi, Marko, Blankenberg, Stefan, Ardissino, Diego, Shah, Svati, Horne, Benjamin, McPherson, Ruth, Hovingh, Gerald K., Reilly, Muredach P., Watkins, Hugh, Goel, Anuj, Farrall, Martin, Girelli, Domenico, Reiner, Alex P., Stitziel, Nathan O., Kathiresan, Sekar, Gabriel, Stacey, Barrett, Jeffrey C., Lehtimäki, Terho, Laakso, Markku, Groop, Leif, Kaprio, Jaakko, Perola, Markus, McCarthy, Mark I., Boehnke, Michael, Altshuler, David M., Lindgren, Cecilia M., Hirschhorn, Joel N., Metspalu, Andres, Freimer, Nelson B., Zeller, Tanja, Jalkanen, Sirpa, Koskinen, Seppo, Raitakari, Olli, Durbin, Richard, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Daly, Mark J., Palotie, Aarno
Publicado 2014

Genetic invalidation of Lp-PLA(2) as a therapeutic target: Large-scale study of five functional Lp-PLA(2)-lowering alleles

por Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna MM, Di Angelantonio, Emanuele, Butterworth, Adam S, Danesh, John
Publicado 2016

Semi-automated assembly of high-quality diploid human reference genomes

por Jarvis, Erich D., Formenti, Giulio, Rhie, Arang, Guarracino, Andrea, Yang, Chentao, Wood, Jonathan, Tracey, Alan, Thibaud-Nissen, Francoise, Vollger, Mitchell R., Porubsky, David, Cheng, Haoyu, Asri, Mobin, Logsdon, Glennis A., Carnevali, Paolo, Chaisson, Mark J. P., Chin, Chen-Shan, Cody, Sarah, Collins, Joanna, Ebert, Peter, Escalona, Merly, Fedrigo, Olivier, Fulton, Robert S., Fulton, Lucinda L., Garg, Shilpa, Gerton, Jennifer L., Ghurye, Jay, Granat, Anastasiya, Green, Richard E., Harvey, William, Hasenfeld, Patrick, Hastie, Alex, Haukness, Marina, Jaeger, Erich B., Jain, Miten, Kirsche, Melanie, Kolmogorov, Mikhail, Korbel, Jan O., Koren, Sergey, Korlach, Jonas, Lee, Joyce, Li, Daofeng, Lindsay, Tina, Lucas, Julian, Luo, Feng, Marschall, Tobias, Mitchell, Matthew W., McDaniel, Jennifer, Nie, Fan, Olsen, Hugh E., Olson, Nathan D., Pesout, Trevor, Potapova, Tamara, Puiu, Daniela, Regier, Allison, Ruan, Jue, Salzberg, Steven L., Sanders, Ashley D., Schatz, Michael C., Schmitt, Anthony, Schneider, Valerie A., Selvaraj, Siddarth, Shafin, Kishwar, Shumate, Alaina, Stitziel, Nathan O., Stober, Catherine, Torrance, James, Wagner, Justin, Wang, Jianxin, Wenger, Aaron, Xiao, Chuanle, Zimin, Aleksey V., Zhang, Guojie, Wang, Ting, Li, Heng, Garrison, Erik, Haussler, David, Hall, Ira, Zook, Justin M., Eichler, Evan E., Phillippy, Adam M., Paten, Benedict, Howe, Kerstin, Miga, Karen H.
Publicado 2022

Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction

por Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Merlini, Pier Angelica, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F.R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Hovingh, G. Kees, Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Cupples, L. Adrienne, Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Tang, W.H. Wilson, Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O’Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar
Publicado 2014

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

por Webb, Thomas R., Erdmann, Jeanette, Stirrups, Kathleen E., Stitziel, Nathan O., Masca, Nicholas G.D., Jansen, Henning, Kanoni, Stavroula, Nelson, Christopher P., Ferrario, Paola G., König, Inke R., Eicher, John D., Johnson, Andrew D., Hamby, Stephen E., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Weeke, Peter E., Auer, Paul L., Schick, Ursula M., Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M., Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A., Willenborg, Christina, Braund, Peter S., van Capelleveen, Julian C., Doney, Alex S.F., Donnelly, Louise A., Asselta, Rosanna, Merlini, Pier A., Duga, Stefano, Marziliano, Nicola, Denny, Josh C., Shaffer, Christian, El-Mokhtari, Nour Eddine, Franke, Andre, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L., Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L., Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I., Van Zuydam, Natalie R., Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A., Alver, Maris, Moebus, Susanne, Morris, Andrew D., Virtamo, Jarma, Nikpay, Majid, Olivieri, Oliviero, Provost, Sylvie, AlQarawi, Alaa, Robertson, Neil R., Akinsansya, Karen O., Reilly, Dermot F., Vogt, Thomas F., Yin, Wu, Asselbergs, Folkert W., Kooperberg, Charles, Jackson, Rebecca D., Stahl, Eli, Müller-Nurasyid, Martina, Strauch, Konstantin, Varga, Tibor V., Waldenberger, Melanie, Zeng, Lingyao, Chowdhury, Rajiv, Salomaa, Veikko, Ford, Ian, Jukema, J. Wouter, Amouyel, Philippe, Kontto, Jukka, Nordestgaard, Børge G., Ferrières, Jean, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Wagner, Aline, Young, Robin, Howson, Joanna M.M., Butterworth, Adam S., Danesh, John, Ardissino, Diego, Bottinger, Erwin P., Erbel, Raimund, Franks, Paul W., Girelli, Domenico, Hall, Alistair S., Hovingh, G. Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E., Shah, Svati H., McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin N.A., Peters, Annette, Rader, Daniel J., Reilly, Muredach P., Loos, Ruth J.F., Reiner, Alex P., Roden, Dan M., Tardif, Jean-Claude, Thompson, John R., Wareham, Nicholas J., Watkins, Hugh, Willer, Cristen J., Samani, Nilesh J., Schunkert, Heribert, Deloukas, Panos, Kathiresan, Sekar
Publicado 2017