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JOURNAL ARTICLE
Marina Raquel Santos, Mariana Santos Silva, Sara Lopes Guerreiro, Daniel Alberto Gomes, Bruno Miguel Rocha, Gonçalo Lopes Cunha, Pedro Nuno Freitas, João Maria Abecasis, Ana Coutinho Santos, Carla Cristina Saraiva, Miguel Mendes, António Miguel Ferreira
Recently, a classification with four types of septal longitudinal strain patterns was described using echocardiography, suggesting a pathophysiological continuum of left bundle branch block (LBBB)-induced left ventricle (LV) remodeling. The aim of this study was to assess the feasibility of classifying these strain patterns using cardiovascular magnetic resonance (CMR), and to evaluate their association with LV remodeling and myocardial scar. Single center registry included LBBB patients with septal flash (SF) referred to CMR to assess the cause of LV systolic dysfunction...
February 20, 2024: International Journal of Cardiovascular Imaging
#2
Andrey Ziyatdinov, Jason Torres, Jesús Alegre-Díaz, Joshua Backman, Joelle Mbatchou, Michael Turner, Sheila M Gaynor, Tyler Joseph, Yuxin Zou, Daren Liu, Rachel Wade, Jeffrey Staples, Razvan Panea, Alex Popov, Xiaodong Bai, Suganthi Balasubramanian, Lukas Habegger, Rouel Lanche, Alex Lopez, Evan Maxwell, Marcus Jones, Humberto García-Ortiz, Raul Ramirez-Reyes, Rogelio Santacruz-Benítez, Abhishek Nag, Katherine R Smith, Amy Damask, Nan Lin, Charles Paulding, Mark Reppell, Sebastian Zöllner, Eric Jorgenson, William Salerno, Slavé Petrovski, John Overton, Jeffrey Reid, Timothy A Thornton, Gonçalo Abecasis, Jaime Berumen, Lorena Orozco-Orozco, Rory Collins, Aris Baras, Michael R Hill, Jonathan R Emberson, Jonathan Marchini, Pablo Kuri-Morales, Roberto Tapia-Conyer
No abstract text is available yet for this article.
February 8, 2024: Nature
#3
Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, Chunyu Liu
We rigorously assessed a comprehensive association testing framework for heteroplasmy, employing both simulated and real-world data. This framework employed a variant allele fraction (VAF) threshold and harnessed multiple gene-based tests for robust identification and association testing of heteroplasmy. Our simulation studies demonstrated that gene-based tests maintained an appropriate type I error rate at α=0.001. Notably, when 5% or more heteroplasmic variants within a target region were linked to an outcome, burden-extension tests (including the adaptive burden test, variable threshold burden test, and z-score weighting burden test) outperformed the sequence kernel association test (SKAT) and the original burden test...
January 13, 2024: medRxiv
#4
JOURNAL ARTICLE
Alan Kwong, Matthew Zawistowski, Lars G Fritsche, Xiaowei Zhan, Jennifer Bragg-Gresham, Kari E Branham, Jayshree Advani, Mohammad Othman, Rinki Ratnapriya, Tanya M Teslovich, Dwight Stambolian, Emily Y Chew, Gonçalo R Abecasis, Anand Swaroop
Genome-wide association studies have contributed extensively to the discovery of disease-associated common variants. However, the genetic contribution to complex traits is still largely difficult to interpret. We report a genome-wide association study of 2394 cases and 2393 controls for age-related macular degeneration (AMD) via whole-genome sequencing, with 46.9 million genetic variants. Our study reveals significant single-variant association signals at four loci and independent gene-based signals in CFH, C2, C3, and NRTN...
November 2, 2023: Human Molecular Genetics
#5
JOURNAL ARTICLE
Andrey Ziyatdinov, Jason Torres, Jesús Alegre-Díaz, Joshua Backman, Joelle Mbatchou, Michael Turner, Sheila M Gaynor, Tyler Joseph, Yuxin Zou, Daren Liu, Rachel Wade, Jeffrey Staples, Razvan Panea, Alex Popov, Xiaodong Bai, Suganthi Balasubramanian, Lukas Habegger, Rouel Lanche, Alex Lopez, Evan Maxwell, Marcus Jones, Humberto García-Ortiz, Raul Ramirez-Reyes, Rogelio Santacruz-Benítez, Abhishek Nag, Katherine R Smith, Amy Damask, Nan Lin, Charles Paulding, Mark Reppell, Sebastian Zöllner, Eric Jorgenson, William Salerno, Slavé Petrovski, John Overton, Jeffrey Reid, Timothy A Thornton, Gonçalo Abecasis, Jaime Berumen, Lorena Orozco-Orozco, Rory Collins, Aris Baras, Michael R Hill, Jonathan R Emberson, Jonathan Marchini, Pablo Kuri-Morales, Roberto Tapia-Conyer
The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City1 . Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. We describe high levels of relatedness and substantial heterogeneity in ancestry composition across individuals. Most sequenced individuals had admixed Indigenous American, European and African ancestry, with extensive admixture from Indigenous populations in central, southern and southeastern Mexico...
October 2023: Nature
#6
JOURNAL ARTICLE
Xue Liu, Xianbang Sun, Yuankai Zhang, Wenqing Jiang, Meng Lai, Kerri L Wiggins, Laura M Raffield, Lawrence F Bielak, Wei Zhao, Achilleas Pitsillides, Jeffrey Haessler, Yinan Zheng, Thomas W Blackwell, Jie Yao, Xiuqing Guo, Yong Qian, Bharat Thyagarajan, Nathan Pankratz, Stephen S Rich, Kent D Taylor, Patricia A Peyser, Susan R Heckbert, Sudha Seshadri, Eric Boerwinkle, Megan L Grove, Nicholas B Larson, Jennifer A Smith, Ramachandran S Vasan, Annette L Fitzpatrick, Myriam Fornage, Jun Ding, April P Carson, Goncalo Abecasis, Josée Dupuis, Alexander Reiner, Charles Kooperberg, Lifang Hou, Bruce M Psaty, James G Wilson, Daniel Levy, Jerome I Rotter, Joshua C Bis, Claudia L Satizabal, Dan E Arking, Chunyu Liu
Background The relationship between mitochondrial DNA copy number (mtDNA CN) and cardiovascular disease remains elusive. Methods and Results We performed cross-sectional and prospective association analyses of blood-derived mtDNA CN and cardiovascular disease outcomes in 27 316 participants in 8 cohorts of multiple racial and ethnic groups with whole-genome sequencing. We also performed Mendelian randomization to explore causal relationships of mtDNA CN with coronary heart disease (CHD) and cardiometabolic risk factors (obesity, diabetes, hypertension, and hyperlipidemia)...
October 7, 2023: Journal of the American Heart Association
#7
JOURNAL ARTICLE
Sirui Zhou, Olukayode A Sosina, Jonas Bovijn, Laetitia Laurent, Vasundhara Sharma, Parsa Akbari, Vincenzo Forgetta, Lai Jiang, Jack A Kosmicki, Nilanjana Banerjee, John A Morris, Erin Oerton, Marcus Jones, Michelle G LeBlanc, Vincent Idone, John D Overton, Jeffrey G Reid, Michael Cantor, Goncalo R Abecasis, David Goltzman, Celia M T Greenwood, Claudia Langenberg, Aris Baras, Aris N Economides, Manuel A R Ferreira, Sarah Hatsell, Claes Ohlsson, J Brent Richards, Luca A Lotta
In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale multiancestry exome-wide association study for estimated bone mineral density, which showed that the burden of rare coding alleles in 19 genes was associated with estimated bone mineral density (P < 3.6 × 10-7 ). These genes were highly enriched for a set of known causal genes for osteoporosis (65-fold; P = 2...
August 2023: Nature Genetics
#8
JOURNAL ARTICLE
Veera M Rajagopal, Kyoko Watanabe, Joelle Mbatchou, Ariane Ayer, Peter Quon, Deepika Sharma, Michael D Kessler, Kavita Praveen, Sahar Gelfman, Neelroop Parikshak, Jacqueline M Otto, Suying Bao, Shek Man Chim, Elias Pavlopoulos, Andreja Avbersek, Manav Kapoor, Esteban Chen, Marcus B Jones, Michelle Leblanc, Jonathan Emberson, Rory Collins, Jason Torres, Pablo Kuri Morales, Roberto Tapia-Conyer, Jesus Alegre, Jaime Berumen, Alan R Shuldiner, Suganthi Balasubramanian, Gonçalo R Abecasis, Hyun M Kang, Jonathan Marchini, Eli A Stahl, Eric Jorgenson, Robert Sanchez, Wolfgang Liedtke, Matthew Anderson, Michael Cantor, David Lederer, Aris Baras, Giovanni Coppola
Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify drug targets. We performed an exome-wide association study of smoking phenotypes in up to 749,459 individuals and discovered a protective association in CHRNB2, encoding the β2 subunit of the α4β2 nicotine acetylcholine receptor. Rare predicted loss-of-function and likely deleterious missense variants in CHRNB2 in aggregate were associated with a 35% decreased odds for smoking heavily (odds ratio (OR) = 0...
June 12, 2023: Nature Genetics
#9
Sarah E Graham, Shoa L Clarke, Kuan-Han H Wu, Stavroula Kanoni, Greg J M Zajac, Shweta Ramdas, Ida Surakka, Ioanna Ntalla, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Mi Yeong Hwang, Sohee Han, Akira Narita, Ananyo Choudhury, Amy R Bentley, Kenneth Ekoru, Anurag Verma, Bhavi Trivedi, Hilary C Martin, Karen A Hunt, Qin Hui, Derek Klarin, Xiang Zhu, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Sanni E Ruotsalainen, Aki S Havulinna, Yogasudha Veturi, QiPing Feng, Elisabeth A Rosenthal, Todd Lingren, Jennifer Allen Pacheco, Sarah A Pendergrass, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie Campbell, Kuang Lin, Iona Y Millwood, George Hindy, Asif Rasheed, Jessica D Faul, Wei Zhao, David R Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Anubha Mahajan, Michael R Brown, Weihua Zhang, Ketian Yu, Ellen M Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Gonneke Willemsen, Andrew R Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E Mitchell, Jin Fang Chai, Mette Aadahl, Jie Yao, Ani Manichaikul, Helen R Warren, Julia Ramirez, Jette Bork-Jensen, Line L Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Carlo Sidore, Edoardo Fiorillo, Aaron F McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T Møllehave, Betina H Thuesen, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E Galesloot, Jonathan P Bradfield, E Warwick Daw, Joseph M Zmuda, Jonathan S Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A Brody, Mary F Feitosa, Mary K Wojczynski, Michael Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W Benjamins, Jorgen Engmann, Rachel L Kember, Roderick C Slieker, Ken Sin Lo, Nuno R Zilhao, Phuong Le, Marcus E Kleber, Graciela E Delgado, Shaofeng Huo, Daisuke D Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Hampton L Leonard, Jonathan Marten, Börge Schmidt, Marina Arendt, Laura J Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Meraj Ahmed, Anne U Jackson, Noha A Yousri, Marguerite R Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R H J Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A Lange, Xiaoran Chai, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C Warner, Ya Xing Wang, Wen B Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Yi-Jen Hung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A Kentistou, Mathias Gorski, Marco Brumat, Karina Meidtner, Lawrence F Bielak, Jennifer A Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Chao Xue, Jifeng Zhang, Maria Pina Concas, Simona Vaccargiu, Peter J van der Most, Niina Pitkänen, Brian E Cade, Jiwon Lee, Sander W van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Martina E Zimmermann, Jong Young Lee, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W Rayner, Carol A Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hildalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O Obura, Jessica van Setten, Xiaoyin Li, Karen Schwander, Natalie Terzikhan, Jae Hun Shin, Rebecca D Jackson, Alexander P Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Heather M Highland, Kristin L Young, Takahisa Kawaguchi, Joachim Thiery, Joshua C Bis, Girish N Nadkarni, Lenore J Launer, Huaixing Li, Mike A Nalls, Olli T Raitakari, Sahoko Ichihara, Sarah H Wild, Christopher P Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Konain Fatima Bhatti, Dominique de Kleijn, Gert J de Borst, Eung Kweon Kim, Hieab H H Adams, M Arfan Ikram, Xiaofeng Zhu, Folkert W Asselbergs, Adriaan O Kraaijeveld, Joline W J Beulens, Xiao-Ou Shu, Loukianos S Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E Pennell, Trevor A Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M Heid, Klaus J Stark, Henry Völzke, Georg Homuth, Michele K Evans, Alan B Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E Hoefer, Susan Redline, Katja Pahkala, Albertine J Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Y Eugene Chen, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L R Kardia, Norihiro Kato, Matthias B Schulze, Giorgia Girotto, Bettina Jung, Carsten A Böger, Peter K Joshi, David A Bennett, Philip L De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J Caulfield, Patricia B Munroe, Xiuqing Guo, Marina Ciullo, Jost B Jonas, Nilesh J Samani, Jaakko Kaprio, Päivi Pajukanta, Linda S Adair, Sonny Augustin Bechayda, H Janaka de Silva, Ananda R Wickremasinghe, Ronald M Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke I den Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G Wilson, Lars Lind, Chew-Kiat Heng, Amanda E Nelson, Yvonne M Golightly, James F Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J Scott, D C Rao, Donna K Arnett, Steven C Hunt, Mark Walker, Heikki A Koistinen, Giriraj R Chandak, Chittaranjan S Yajnik, Josep M Mercader, Teresa Tusié-Luna, Carlos A Aguilar-Salinas, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, E Shyong Tai, Rob M van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I McCarthy, Colin N A Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M van Duijn, Fan Lu, Jia Qu, Haretsugu Hishigaki, Xu Lin, Winfried März, Esteban J Parra, Miguel Cruz, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M 't Hart, Petra J M Elders, Scott M Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D Spector, Ruth J F Loos, Michael A Province, Bruce M Psaty, Ivan Brandslund, Peter P Pramstaller, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Hakon Hakonarson, Struan F A Grant, Lambertus A L M Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W Franks, Allan Linneberg, J Wouter Jukema, Amit V Khera, Minna Männikkö, Marjo-Riitta Jarvelin, Zoltan Kutalik, Francesco Cucca, Dennis O Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P Strachan, Niels Grarup, Peter Sever, Neil Poulter, Jerome I Rotter, Thomas M Dantoft, Fredrik Karpe, Matt J Neville, Nicholas J Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T Hattersley, Nancy L Pedersen, Patrik K E Magnusson, Dorret I Boomsma, Eco J C de Geus, L Adrienne Cupples, Joyce B J van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C Chambers, Jaspal S Kooner, Paul S de Vries, Alanna C Morrison, Kari E North, Martha Daviglus, Peter Kraft, Nicholas G Martin, John B Whitfield, Shahid Abbas, Danish Saleheen, Robin G Walters, Michael V Holmes, Corri Black, Blair H Smith, Anne E Justice, Aris Baras, Julie E Buring, Paul M Ridker, Daniel I Chasman, Charles Kooperberg, Wei-Qi Wei, Gail P Jarvik, Bahram Namjou, M Geoffrey Hayes, Marylyn D Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Unnur Thorsteinsdottir, Kari Stefansson, Yuk-Lam Ho, Julie A Lynch, Daniel J Rader, Philip S Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J O'Donnell, John M Gaziano, Peter Wilson, Charles N Rotimi, Scott Hazelhurst, Michèle Ramsay, Richard C Trembath, David A van Heel, Gen Tamiya, Masayuki Yamamoto, Bong-Jo Kim, Karen L Mohlke, Timothy M Frayling, Joel N Hirschhorn, Sekar Kathiresan, Michael Boehnke, Pradeep Natarajan, Gina M Peloso, Christopher D Brown, Andrew P Morris, Themistocles L Assimes, Panos Deloukas, Yan V Sun, Cristen J Willer
No abstract text is available yet for this article.
May 26, 2023: Nature
#10
Kathie Y Sun, Xiaodong Bai, Siying Chen, Suying Bao, Manav Kapoor, Joshua Backman, Tyler Joseph, Evan Maxwell, George Mitra, Alexander Gorovits, Adam Mansfield, Boris Boutkov, Sujit Gokhale, Lukas Habegger, Anthony Marcketta, Adam Locke, Michael D Kessler, Deepika Sharma, Jeffrey Staples, Jonas Bovijn, Sahar Gelfman, Alessandro Di Gioia, Veera Rajagopal, Alexander Lopez, Jennifer Rico Varela, Jesus Alegre, Jaime Berumen, Roberto Tapia-Conyer, Pablo Kuri-Morales, Jason Torres, Jonathan Emberson, Rory Collins, Michael Cantor, Timothy Thornton, Hyun Min Kang, John Overton, Alan R Shuldiner, M Laura Cremona, Mona Nafde, Aris Baras, Goncalo Abecasis, Jonathan Marchini, Jeffrey G Reid, William Salerno, Suganthi Balasubramanian
Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants. Individuals of African, Admixed American, East Asian, Middle Eastern, and South Asian ancestry account for 20% of this Exome dataset...
May 10, 2023: bioRxiv
#11
JOURNAL ARTICLE
Joshua S Weinstock, Cecelia A Laurie, Jai G Broome, Kent D Taylor, Xiuqing Guo, Alan R Shuldiner, Jeffrey R O'Connell, Joshua P Lewis, Eric Boerwinkle, Kathleen C Barnes, Nathalie Chami, Eimear E Kenny, Ruth J F Loos, Myriam Fornage, Susan Redline, Brian E Cade, Frank D Gilliland, Zhanghua Chen, W James Gauderman, Rajesh Kumar, Leslie Grammer, Robert P Schleimer, Bruce M Psaty, Joshua C Bis, Jennifer A Brody, Edwin K Silverman, Jeong H Yun, Dandi Qiao, Scott T Weiss, Jessica Lasky-Su, Dawn L DeMeo, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Michael H Cho, Ramachandran S Vasan, Andrew D Johnson, Lisa R Yanek, Lewis C Becker, Sharon Kardia, Jiang He, Robert Kaplan, Susan R Heckbert, Nicholas L Smith, Kerri L Wiggins, Donna K Arnett, Marguerite R Irvin, Hemant Tiwari, Adolfo Correa, Laura M Raffield, Yan Gao, Mariza de Andrade, Jerome I Rotter, Stephen S Rich, Ani W Manichaikul, Barbara A Konkle, Jill M Johnsen, Marsha M Wheeler, Brian S Custer, Ravindranath Duggirala, Joanne E Curran, John Blangero, Hongsheng Gui, Shujie Xiao, L Keoki Williams, Deborah A Meyers, Xingnan Li, Victor Ortega, Stephen McGarvey, C Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, M Benjamin Shoemaker, Dawood Darbar, Dan Roden, Christine Albert, Charles Kooperberg, Pinkal Desai, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Rasika Mathias, Pradeep Natarajan, Siddhartha Jaiswal, Alexander P Reiner, Alexander G Bick
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs...
April 28, 2023: Science Advances
#12
JOURNAL ARTICLE
Joshua S Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Julia A Belk, Hind Bouzid, Bence Daniel, Zhuang Miao, Nghi Ly, Taralynn M Mack, Sofia E Luna, Katherine P Prothro, Shaneice R Mitchell, Cecelia A Laurie, Jai G Broome, Kent D Taylor, Xiuqing Guo, Moritz F Sinner, Aenne S von Falkenhausen, Stefan Kääb, Alan R Shuldiner, Jeffrey R O'Connell, Joshua P Lewis, Eric Boerwinkle, Kathleen C Barnes, Nathalie Chami, Eimear E Kenny, Ruth J F Loos, Myriam Fornage, Lifang Hou, Donald M Lloyd-Jones, Susan Redline, Brian E Cade, Bruce M Psaty, Joshua C Bis, Jennifer A Brody, Edwin K Silverman, Jeong H Yun, Dandi Qiao, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Michael H Cho, Dawn L DeMeo, Ramachandran S Vasan, Lisa R Yanek, Lewis C Becker, Sharon L R Kardia, Patricia A Peyser, Jiang He, Michiel Rienstra, Pim Van der Harst, Robert Kaplan, Susan R Heckbert, Nicholas L Smith, Kerri L Wiggins, Donna K Arnett, Marguerite R Irvin, Hemant Tiwari, Michael J Cutler, Stacey Knight, J Brent Muhlestein, Adolfo Correa, Laura M Raffield, Yan Gao, Mariza de Andrade, Jerome I Rotter, Stephen S Rich, Russell P Tracy, Barbara A Konkle, Jill M Johnsen, Marsha M Wheeler, J Gustav Smith, Olle Melander, Peter M Nilsson, Brian S Custer, Ravindranath Duggirala, Joanne E Curran, John Blangero, Stephen McGarvey, L Keoki Williams, Shujie Xiao, Mao Yang, C Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, Gregory M Marcus, John P Kane, Clive R Pullinger, M Benjamin Shoemaker, Dawood Darbar, Dan M Roden, Christine Albert, Charles Kooperberg, Ying Zhou, JoAnn E Manson, Pinkal Desai, Andrew D Johnson, Rasika A Mathias, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Ansuman T Satpathy, Pradeep Natarajan, Jacob O Kitzman, Eric A Whitsel, Alexander P Reiner, Alexander G Bick, Siddhartha Jaiswal
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1 . These lesions are precursors for blood cancers2-6 , but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point. We applied this method to 5,071 people with clonal haematopoiesis...
April 12, 2023: Nature
#13
JOURNAL ARTICLE
Maria C Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P Welch, Parul Kudtarkar, Quy Hoang, Andrew P Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C McMahon, Josep M Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Philip Smith, Melissa K Thomas, Beena Akolkar, M Julia Brosnan, Andriy Cherkas, Audrey Y Chu, Eric B Fauman, Caroline S Fox, Tania Nayak Kamphaus, Melissa R Miller, Lynette Nguyen, Afshin Parsa, Dermot F Reilly, Hartmut Ruetten, David Wholley, Norann A Zaghloul, Gonçalo R Abecasis, David Altshuler, Thomas M Keane, Mark I McCarthy, Kyle J Gaulton, Jose C Florez, Michael Boehnke, Noël P Burtt, Jason Flannick
Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits. Here, we seek to make the T2DKP more accessible to prospective users and more useful to existing users. First, we evaluate the T2DKP's comprehensiveness by comparing its datasets with those of other repositories...
April 4, 2023: Cell Metabolism
#14
JOURNAL ARTICLE
Matthew Zawistowski, Lars G Fritsche, Anita Pandit, Brett Vanderwerff, Snehal Patil, Ellen M Schmidt, Peter VandeHaar, Cristen J Willer, Chad M Brummett, Sachin Kheterpal, Xiang Zhou, Michael Boehnke, Gonçalo R Abecasis, Sebastian Zöllner
Biobanks of linked clinical patient histories and biological samples are an efficient strategy to generate large cohorts for modern genetics research. Biobank recruitment varies by factors such as geographic catchment and sampling strategy, which affect biobank demographics and research utility. Here, we describe the Michigan Genomics Initiative (MGI), a single-health-system biobank currently consisting of >91,000 participants recruited primarily during surgical encounters at Michigan Medicine. The surgical enrollment results in a biobank enriched for many diseases and ideally suited for a disease genetics cohort...
February 8, 2023: Cell Genom
#15
Michael D Kessler, Amy Damask, Sean O'Keeffe, Nilanjana Banerjee, Dadong Li, Kyoko Watanabe, Anthony Marketta, Michael Van Meter, Stefan Semrau, Julie Horowitz, Jing Tang, Jack A Kosmicki, Veera M Rajagopal, Yuxin Zou, Yariv Houvras, Arkopravo Ghosh, Christopher Gillies, Joelle Mbatchou, Ryan R White, Niek Verweij, Jonas Bovijn, Neelroop N Parikshak, Michelle G LeBlanc, Marcus Jones, David J Glass, Luca A Lotta, Michael N Cantor, Gurinder S Atwal, Adam E Locke, Manuel A R Ferreira, Raquel Deering, Charles Paulding, Alan R Shuldiner, Gavin Thurston, Adolfo A Ferrando, Will Salerno, Jeffrey G Reid, John D Overton, Jonathan Marchini, Hyun M Kang, Aris Baras, Gonçalo R Abecasis, Eric Jorgenson
No abstract text is available yet for this article.
February 17, 2023: Nature
#16
JOURNAL ARTICLE
Ben M Brumpton, Sarah Graham, Ida Surakka, Anne Heidi Skogholt, Mari Løset, Lars G Fritsche, Brooke Wolford, Wei Zhou, Jonas Bille Nielsen, Oddgeir L Holmen, Maiken E Gabrielsen, Laurent Thomas, Laxmi Bhatta, Humaira Rasheed, He Zhang, Hyun Min Kang, Whitney Hornsby, Marta Riise Moksnes, Eivind Coward, Mads Melbye, Guro F Giskeødegård, Jørn Fenstad, Steinar Krokstad, Marit Næss, Arnulf Langhammer, Michael Boehnke, Gonçalo R Abecasis, Bjørn Olav Åsvold, Kristian Hveem, Cristen J Willer
The Trøndelag Health Study (HUNT) is a population-based cohort of ∼229,000 individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway. Approximately 88,000 of these individuals have available genetic data from array genotyping. HUNT participants were recruited during four community-based recruitment waves and provided information on health-related behaviors, self-reported diagnoses, family history of disease, and underwent physical examinations. Linkage via the Norwegian personal identification number integrates digitized health care information from doctor visits and national health registries including death, cancer and prescription registries...
October 12, 2022: Cell Genom
#17
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark Jp Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert V Smith, John A Lane, Tom Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D Palmer, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, James Luo, Alex Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a balance between comprehensiveness and precision. Here we present a catalog of 355,667 SVs (59.34% novel) across autosomes and the X chromosome (50bp+) from 138,134 individuals in the diverse TOPMed consortium. We describe our methodologies for SV inference resulting in high variant quality and >90% allele concordance compared to long-read de-novo assemblies of well-characterized control samples...
January 25, 2023: bioRxiv
#18
JOURNAL ARTICLE
Gregory J M Zajac, Sarah A Gagliano Taliun, Carlo Sidore, Sarah E Graham, Bjørn O Åsvold, Ben Brumpton, Jonas B Nielsen, Wei Zhou, Maiken Gabrielsen, Anne H Skogholt, Lars G Fritsche, David Schlessinger, Francesco Cucca, Kristian Hveem, Cristen J Willer, Gonçalo R Abecasis
Linkage analysis, a class of methods for detecting co-segregation of genomic segments and traits in families, was used to map disease-causing genes for decades before genotyping arrays and dense SNP genotyping enabled genome-wide association studies in population samples. Population samples often contain related individuals, but the segregation of alleles within families is rarely used because traditional linkage methods are computationally inefficient for larger datasets. Here, we describe Population Linkage, a novel application of Haseman-Elston regression as a method of moments estimator of variance components and their standard errors...
February 5, 2023: Genetic Epidemiology
#19
JOURNAL ARTICLE
Stavroula Kanoni, Sarah E Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Xiang Zhu, Shoa L Clarke, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Greg J M Zajac, Kuan-Han H Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Aki S Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J Kullo, Akira Narita, Jun Takayama, Hilary C Martin, Karen A Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie Campbell, Kuang Lin, Iona Y Millwood, Asif Rasheed, George Hindy, Jessica D Faul, Wei Zhao, David R Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R Brown, Weihua Zhang, Ketian Yu, Ellen M Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R Wood, Yingji Ji, Zishan Gao, Simon Haworth, Noha A Yousri, Ruth E Mitchell, Jin Fang Chai, Mette Aadahl, Anne A Bjerregaard, Jie Yao, Ani Manichaikul, Chii-Min Hwu, Yi-Jen Hung, Helen R Warren, Julia Ramirez, Jette Bork-Jensen, Line L Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E Galesloot, Jonathan P Bradfield, Sanni E Ruotsalainen, EWarwick Daw, Joseph M Zmuda, Jonathan S Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A Brody, Miguel Vazquez-Moreno, Mary F Feitosa, Mary K Wojczynski, Zhe Wang, Michael H Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W Benjamins, Jorgen Engmann, Noah L Tsao, Anurag Verma, Roderick C Slieker, Ken Sin Lo, Nuno R Zilhao, Phuong Le, Marcus E Kleber, Graciela E Delgado, Shaofeng Huo, Daisuke D Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayşe Demirkan, Hampton L Leonard, Jonathan Marten, Mirjam Frank, Börge Schmidt, Laura J Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S Nongmaithem, Swati Bayyana, Heather M Stringham, Marguerite R Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R H J Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A Lange, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C Warner, Ya Xing Wang, Wen B Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A Kentistou, Bernhard Banas, Giuseppe Giovanni Nardone, Karina Meidtner, Lawrence F Bielak, Jennifer A Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J van der Most, Niina Pitkänen, Brian E Cade, Sander W van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R Bentley, Ayo P Doumatey, Adebowale A Adeyemo, Jong Young Lee, Eva R B Petersen, Aneta A Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W Rayner, Carol A Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O Obura, Jessica van Setten, Xiaoyin Li, Jingjing Liang, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D Jackson, Alexander P Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C Bis, Lenore J Launer, Huaixing Li, Mike A Nalls, Olli T Raitakari, Sahoko Ichihara, Sarah H Wild, Christopher P Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J de Borst, Eung Kweon Kim, Hieab H H Adams, M Arfan Ikram, Xiaofeng Zhu, Folkert W Asselbergs, Adriaan O Kraaijeveld, Joline W J Beulens, Xiao-Ou Shu, Loukianos S Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E Pennell, Trevor A Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M Heid, Klaus J Stark, Martina E Zimmermann, Henry Völzke, Georg Homuth, Michele K Evans, Alan B Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E Hoefer, Susan Redline, Katja Pahkala, Albertine J Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L R Kardia, Patricia A Peyser, Norihiro Kato, Matthias B Schulze, Giorgia Girotto, Carsten A Böger, Bettina Jung, Peter K Joshi, David A Bennett, Philip L De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J Caulfield, Patricia B Munroe, Xiuqing Guo, Marina Ciullo, Jost B Jonas, Nilesh J Samani, Jaakko Kaprio, Päivi Pajukanta, Teresa Tusié-Luna, Carlos A Aguilar-Salinas, Linda S Adair, Sonny Augustin Bechayda, H Janaka de Silva, Ananda R Wickremasinghe, Ronald M Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke Iden Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G Wilson, Lars Lind, Chew-Kiat Heng, Amanda E Nelson, Yvonne M Golightly, James F Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J Scott, D C Rao, Donna K Arnett, Steven C Hunt, Mark Walker, Heikki A Koistinen, Giriraj R Chandak, Josep M Mercader, Maria C Costanzo, Dongkeun Jang, Noël P Burtt, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, EShyong Tai, Rob M van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I McCarthy, Colin N A Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M van Duijn, Zi-Bing Jin, Jia Qu, Haretsugu Hishigaki, Xu Lin, Winfried März, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M 't Hart, Petra J M Elders, Scott M Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D Spector, Ruth J F Loos, Michael A Province, Esteban J Parra, Miguel Cruz, Bruce M Psaty, Ivan Brandslund, Peter P Pramstaller, Charles N Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Hakon Hakonarson, Struan F A Grant, Lambertus A L M Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W Franks, Allan Linneberg, J Wouter Jukema, Amit V Khera, Minna Männikkö, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P Strachan, Niels Grarup, Peter Sever, Neil Poulter, Lee-Ming Chuang, Jerome I Rotter, Thomas M Dantoft, Fredrik Karpe, Matt J Neville, Nicholas J Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T Hattersley, Nancy L Pedersen, Patrik K E Magnusson, Dorret I Boomsma, Allegonda H M Willemsen, LAdrienne Cupples, Joyce B J van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C Chambers, Jaspal S Kooner, Paul S de Vries, Alanna C Morrison, Scott Hazelhurst, Michèle Ramsay, Kari E North, Martha Daviglus, Peter Kraft, Nicholas G Martin, John B Whitfield, Shahid Abbas, Danish Saleheen, Robin G Walters, Michael V Holmes, Corri Black, Blair H Smith, Aris Baras, Anne E Justice, Julie E Buring, Paul M Ridker, Daniel I Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A van Heel, Richard C Trembath, Wei-Qi Wei, Gail P Jarvik, Bahram Namjou, M Geoffrey Hayes, Marylyn D Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, YEugene Chen, Yuk-Lam Ho, Julie A Lynch, Daniel J Rader, Philip S Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J O'Donnell, John M Gaziano, Peter W F Wilson, Timothy M Frayling, Joel N Hirschhorn, Sekar Kathiresan, Karen L Mohlke, Yan V Sun, Andrew P Morris, Michael Boehnke, Christopher D Brown, Pradeep Natarajan, Panos Deloukas, Cristen J Willer, Themistocles L Assimes, Gina M Peloso
BACKGROUND: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. RESULTS: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches...
December 27, 2022: Genome Biology
#20
JOURNAL ARTICLE
Marsha M Wheeler, Adrienne M Stilp, Shuquan Rao, Bjarni V Halldórsson, Doruk Beyter, Jia Wen, Anna V Mihkaylova, Caitlin P McHugh, John Lane, Min-Zhi Jiang, Laura M Raffield, Goo Jun, Fritz J Sedlazeck, Ginger Metcalf, Yao Yao, Joshua B Bis, Nathalie Chami, Paul S de Vries, Pinkal Desai, James S Floyd, Yan Gao, Kai Kammers, Wonji Kim, Jee-Young Moon, Aakrosh Ratan, Lisa R Yanek, Laura Almasy, Lewis C Becker, John Blangero, Michael H Cho, Joanne E Curran, Myriam Fornage, Robert C Kaplan, Joshua P Lewis, Ruth J F Loos, Braxton D Mitchell, Alanna C Morrison, Michael Preuss, Bruce M Psaty, Stephen S Rich, Jerome I Rotter, Hua Tang, Russell P Tracy, Eric Boerwinkle, Goncalo R Abecasis, Thomas W Blackwell, Albert V Smith, Andrew D Johnson, Rasika A Mathias, Deborah A Nickerson, Matthew P Conomos, Yun Li, Unnur Þorsteinsdóttir, Magnús K Magnússon, Kari Stefansson, Nathan D Pankratz, Daniel E Bauer, Paul L Auer, Alex P Reiner
Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits...
December 8, 2022: Nature Communications
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