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Genetic analysis of right heart structure and function in 40,000 people

Autor: Pirruccello, James P., di Achille, Paolo, Nauffal, Victor, Nekoui, Mahan, Friedman, Samuel F., Klarqvist, Marcus D. R., Chaffin, Mark D., Weng, Lu-Chen, Cunningham, Jonathan W., Khurshid, Shaan, Roselli, Carolina, Lin, Honghuang, Koyama, Satoshi, Ito, Kaoru, Kamatani, Yoichiro, Komuro, Issei, Matsuda, Koichi, Yamanashi, Yuji, Furukawa, Yoichi, Morisaki, Takayuki, Murakami, Yoshinori, Mutu, Kaori, Nagai, Akiko, Obara, Wataru, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Suzuki, Takao, Sinozaki, Nobuaki, Yamaguchi, Hiroki, Minami, Shiro, Murayama, Shigeo, Yoshimori, Kozo, Nagayama, Satoshi, Obata, Daisuke, Higashiyama, Masahiko, Masumoto, Akihide, Koretsune, Yukihiro, Jurgens, Sean J., Benjamin, Emelia J., Batra, Puneet, Natarajan, Pradeep, Ng, Kenney, Hoffmann, Udo, Lubitz, Steven A., Ho, Jennifer E., Lindsay, Mark E., Philippakis, Anthony A., Ellinor, Patrick T.

Publikováno v: Nature genetics, 54(6), 792-803. Nature Publishing Group
Nat Genet

Congenital heart diseases often involve maldevelopment of the evolutionarily recent right heart chamber. To gain insight into right heart structure and function, we fine-tuned deep learning models to recognize the right atrium, right ventricle and pu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453e291c363f3f13d13c09cb1c66e119
https://doi.org/10.1038/s41588-022-01090-3

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Autor: Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjornsson, Gardar, Fatemifar, Ghazaleh, Hedman, Asa K, Wilk, Jemma B, Morley, Michael P, Chaffin, Mark D, Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G, Arnlov, Johan, Backman, Joshua D, Biggs, Mary L, Bloom, Heather L, Brandimarto, Jeffrey, Brown, Michael R, Buckbinder, Leonard, Carey, David J, Chasman, Daniel I, Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P, Delgado, Graciela E, Denaxas, Spiros, Doney, Alexander S, Doerr, Marcus, Dudley, Samuel C, Dunn, Michael E, Engstrom, Gunnar, Esko, Tonu, Felix, Stephan B, Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S, Gross, Stefan, Gudbjartsson, Daniel F, Gutmann, Rebecca, Haggerty, Christopher M, van der Harst, Pim, Hyde, Craig L, Ingelsson, Erik, Jukema, J Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E, Kober, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M, London, Barry, Lotta, Luca A, Lovering, Ruth C, Luan, Jian'an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B, Maerz, Winfried, Melander, Olle, Mordi, Ify R, Morgan, Thomas, Morris, Andrew D, Morris, Andrew P, Morrison, Alanna C, Nagle, Michael W, Nelson, Christopher P, Niessner, Alexander, Niiranen, Teemu, O'Donoghue, Michelle L, Owens, Anjali T, Palmer, Colin NA, Parry, Helen M, Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M, Rice, Kenneth M, Ridker, Paul M, Romaine, Simon PR, Rotter, Jerome I, Salo, Perttu, Salomaa, Veikko, van Setten, Jessica, Shalaby, Alaa A, Smelser, Diane T, Smith, Nicholas L, Stender, Steen, Stott, David J, Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D, Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G, Veluchamy, Abirami, Voelker, Uwe, Voors, Adriaan A, Wang, Xiaosong, Wareham, Nicholas J, Waterworth, Dawn, Weeke, Peter E, Weiss, Raul, Wiggins, Kerri L, Xing, Heming, Yerges-Armstrong, Laura M, Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J, McMurray, John JV, Yang, Jian, Visscher, Peter M, Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A, Sattar, Naveed, Holmes, Michael V, Cappola, Thomas P, Asselbergs, Folkert W, Hingorani, Aroon D, Kuchenbaecker, Karoline, Ellinor, Patrick T, Lang, Chim C, Stefansson, Kari, Smith, J Gustav, Vasan, Ramachandran S, Swerdlow, Daniel I, Lumbers, R Thomas, Abecasis, Goncalo, Backman, Joshua, Bai, Xiaodong, Balasubramanian, Suganthi, Banerjee, Nilanjana, Baras, Aris, Barnard, Leland, Beechert, Christina, Blumenfeld, Andrew, Cantor, Michael, Chai, Yating, Coppola, Giovanni, Damask, Amy, Dewey, Frederick, Economides, Aris, Eom, Gisu, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Gurski, Lauren, Guzzardo, Paloma M, Habegger, Lukas, Hahn, Young, Hawes, Alicia, van Hout, Cristopher, Jones, Marcus B, Khalid, Shareef, Lattari, Michael, Li, Alexander, Lin, Nan, Liu, Daren, Lopez, Alexander, Manoochehri, Kia, Marchini, Jonathan, Marcketta, Anthony, Maxwell, Evan K, McCarthy, Shane, Mitnaul, Lyndon J, O'Dushlaine, Colm, Overton, John D, Padilla, Maria Sotiropoulos, Paulding, Charles, Penn, John, Pradhan, Manasi, Reid, Jeffrey G, Schleicher, Thomas D, Schurmann, Claudia, Shuldiner, Alan, Staples, Jeffrey C, Sun, Dylan, Toledo, Karina, Ulloa, Ricardo H, Widom, Louis, Wolf, Sarah E, Yadav, Ashish, Ye, Bin, Ctr, Regeneron Genetics

Publikováno v: Nature Communications, 11(1). NATURE PUBLISHING GROUP
Nature Communications
Nature Communications, 11(1):163. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Gottdiener, J S, Gross, S, Guðbjartsson, D F, Gutmann, R, Haggerty, C M, van der Harst, P, Hyde, C L, Ingelsson, E, Jukema, J W, Kavousi, M, Khaw, K-T, Kleber, M E, Køber, L, Koekemoer, A, Langenberg, C, Lind, L, Lindgren, C M, London, B, Lotta, L A, Lovering, R C, Luan, J, Magnusson, P, Mahajan, A, Margulies, K B, März, W, Melander, O, Mordi, I R, Morgan, T, Morris, A D, Morris, A P, Morrison, A C, Nagle, M W, Nelson, C P, Niessner, A, Niiranen, T, O’Donoghue, M L, Owens, A T, Palmer, C N A, Parry, H M, Perola, M, Portilla-Fernandez, E, Psaty, B M, Abecasis, G, Backman, J, Bai, X, Balasubramanian, S, Banerjee, N, Baras, A, Barnard, L, Beechert, C, Blumenfeld, A, Cantor, M, Chai, Y, Coppola, G, Damask, A, Dewey, F, Economides, A, Eom, G, Forsythe, C, Fuller, E D, Gu, Z, Gurski, L, Guzzardo, P M, Habegger, L, Hahn, Y, Hawes, A, van Hout, C, Jones, M B, Khalid, S, Lattari, M, Li, A, Lin, N, Liu, D, Lopez, A, Manoochehri, K, Marchini, J, Marcketta, A, Maxwell, E K, McCarthy, S, Mitnaul, L J, O’Dushlaine, C, Overton, J D, Padilla, M S, Paulding, C, Penn, J, Pradhan, M, Reid, J G, Schleicher, T D, Schurmann, C, Shuldiner, A, Staples, J C, Sun, D, Toledo, K, Ulloa, R H, Widom, L, Wolf, S E, Yadav, A, Ye, B, Rice, K M, Ridker, P M, Romaine, S P R, Rotter, J I, Salo, P, Salomaa, V, van Setten, J, Shalaby, A A, Smelser, D T, Smith, N L, Stender, S, Stott, D J, Svensson, P, Tammesoo, M-L, Taylor, K D, Teder-Laving, M, Teumer, A, Thorgeirsson, G, Thorsteinsdottir, U, Torp-Pedersen, C, Trompet, S, Tyl, B, Uitterlinden, A G, Veluchamy, A, Völker, U, Voors, A A, Wang, X, Wareham, N J, Waterworth, D, Weeke, P E, Weiss, R, Wiggins, K L, Xing, H, Yerges-Armstrong, L M, Yu, B, Zannad, F, Zhao, J H, Hemingway, H, Samani, N J, McMurray, J J V, Yang, J, Visscher, P M, Newton-Cheh, C, Malarstig, A, Holm, H, Lubitz, S A, Sattar, N, Holmes, M V, Cappola, T P, Asselbergs, F W, Hingorani, A D, Kuchenbaecker, K, Ellinor, P T, Lang, C C, Stefansson, K, Smith, J G, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, 163 . https://doi.org/10.1038/s41467-019-13690-5
2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.163. ⟨10.1038/s41467-019-13690-5⟩
Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Morris, A P, Morris, A D, Nelson, C P, Smith, N L, Zhao, J H, Yang, J & Holmes, M V 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, no. 1, pp. 163 . https://doi.org/10.1038/s41467-019-13690-5
Shah, S, Henry, A, Roselli, C, Lin, H, Sveinbjörnsson, G, Fatemifar, G, Hedman, Å K, Wilk, J B, Morley, M P, Chaffin, M D, Helgadottir, A, Verweij, N, Dehghan, A, Almgren, P, Andersson, C, Aragam, K G, Ärnlöv, J, Backman, J D, Biggs, M L, Bloom, H L, Brandimarto, J, Brown, M R, Buckbinder, L, Carey, D J, Chasman, D I, Chen, X, Chen, X, Chung, J, Chutkow, W, Cook, J P, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Dunn, M E, Engström, G, Esko, T, Felix, S B, Finan, C, Ford, I, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Køber, L, Regeneron Genetics Center, Stender, S, Torp-Pedersen, C, Weeke, P E, Vasan, R S, Swerdlow, D I & Lumbers, R T 2020, ' Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure ', Nature Communications, vol. 11, 163 . https://doi.org/10.1038/s41467-019-13690-5

Publisher's version (útgefin grein)
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a894b6e7f703eee196676f48718af1b7
https://doi.org/10.1038/s41467-019-13690-5

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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis

Autor: Choi, Seung Hoan, Jurgens, Sean J, Haggerty, Christopher M, Hall, Amelia W, Halford, Jennifer L, Morrill, Valerie N, Weng, Lu-Chen, Lagerman, Braxton, Mirshahi, Tooraj, Pettinger, Mary, Guo, Xiuqing, Lin, Henry J, Alonso, Alvaro, Soliman, Elsayed Z, Kornej, Jelena, Lin, Honghuang, Moscati, Arden, Nadkarni, Girish N, Brody, Jennifer A, Wiggins, Kerri L, Cade, Brian E, Lee, Jiwon, Austin-Tse, Christina, Blackwell, Tom, Chaffin, Mark D, Lee, Christina J-Y, Rehm, Heidi L, Roselli, Carolina, Regeneron Genetics Center, Redline, Susan, Mitchell, Braxton D, Sotoodehnia, Nona, Psaty, Bruce M, Heckbert, Susan R, Loos, Ruth JF, Vasan, Ramachandran S, Benjamin, Emelia J, Correa, Adolfo, Boerwinkle, Eric, Arking, Dan E, Rotter, Jerome I, Rich, Stephen S, Whitsel, Eric A, Perez, Marco, Kooperberg, Charles, Fornwalt, Brandon K, Lunetta, Kathryn L, Ellinor, Patrick T, Lubitz, Steven A, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

Publikováno v: Circulation. Genomic and precision medicine, vol 14, iss 4

BackgroundAlterations in electrocardiographic (ECG) intervals are well-known markers for arrhythmia and sudden cardiac death (SCD) risk. While the genetics of arrhythmia syndromes have been studied, relations between electrocardiographic intervals an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::71d34cf89ba2ac25b631b350d4f9f59d
https://escholarship.org/uc/item/3r3170g4