@article {8515,
	title = {{Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls},
	journal = {Nature},
	volume = {570},
	year = {2019},
	month = {06},
	pages = {71{\textendash}76},
	abstract = {Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5\%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 {\~A}{\textemdash} 10-3) and candidate genes from knockout mice (P = 5.2 {\~A}{\textemdash} 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25\% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.},
	author = {Flannick, J. and Mercader, J. M. and Fuchsberger, C. and Udler, M. S. and Mahajan, A. and Wessel, J. and Teslovich, T. M. and Caulkins, L. and Koesterer, R. and Barajas-Olmos, F. and Blackwell, T. W. and Boerwinkle, E. and Brody, J. A. and Centeno-Cruz, F. and Chen, L. and Chen, S. and Contreras-Cubas, C. and C?rdova, E. and Correa, A. and Cortes, M. and DeFronzo, R. A. and Dolan, L. and Drews, K. L. and Elliott, A. and Floyd, J. S. and Gabriel, S. and Garay-Sevilla, M. E. and Garc?a-Ortiz, H. and Gross, M. and Han, S. and Heard-Costa, N. L. and Jackson, A. U. and J?rgensen, M. E. and Kang, H. M. and Kelsey, M. and Kim, B. J. and Koistinen, H. A. and Kuusisto, J. and Leader, J. B. and Linneberg, A. and Liu, C. T. and Liu, J. and Lyssenko, V. and Manning, A. K. and Marcketta, A. and Malacara-Hernandez, J. M. and Mart?nez-Hern?ndez, A. and Matsuo, K. and Mayer-Davis, E. and Mendoza-Caamal, E. and Mohlke, K. L. and Morrison, A. C. and Ndungu, A. and Ng, M. C. Y. and O{\textquoteright}Dushlaine, C. and Payne, A. J. and Pihoker, C. and Post, W. S. and Preuss, M. and Psaty, B. M. and Vasan, R. S. and Rayner, N. W. and Reiner, A. P. and Revilla-Monsalve, C. and Robertson, N. R. and Santoro, N. and Schurmann, C. and So, W. Y. and Sober?n, X. and Stringham, H. M. and Strom, T. M. and Tam, C. H. T. and Thameem, F. and Tomlinson, B. and Torres, J. M. and Tracy, R. P. and van Dam, R. M. and Vujkovic, M. and Wang, S. and Welch, R. P. and Witte, D. R. and Wong, T. Y. and Atzmon, G. and Barzilai, N. and Blangero, J. and Bonnycastle, L. L. and Bowden, D. W. and Chambers, J. C. and Chan, E. and Cheng, C. Y. and Cho, Y. S. and Collins, F. S. and de Vries, P. S. and Duggirala, R. and Glaser, B. and Gonzalez, C. and Gonzalez, M. E. and Groop, L. and Kooner, J. S. and Kwak, S. H. and Laakso, M. and Lehman, D. M. and Nilsson, P. and Spector, T. D. and Tai, E. S. and Tuomi, T. and Tuomilehto, J. and Wilson, J. G. and Aguilar-Salinas, C. A. and Bottinger, E. and Burke, B. and Carey, D. J. and Chan, J. C. N. and Dupuis, J. and Frossard, P. and Heckbert, S. R. and Hwang, M. Y. and Kim, Y. J. and Kirchner, H. L. and Lee, J. Y. and Lee, J. and Loos, R. J. F. and Ma, R. C. W. and Morris, A. D. and O{\textquoteright}Donnell, C. J. and Palmer, C. N. A. and Pankow, J. and Park, K. S. and Rasheed, A. and Saleheen, D. and Sim, X. and Small, K. S. and Teo, Y. Y. and Haiman, C. and Hanis, C. L. and Henderson, B. E. and Orozco, L. and Tusi?-Luna, T. and Dewey, F. E. and Baras, A. and Gieger, C. and Meitinger, T. and Strauch, K. and Lange, L. and Grarup, N. and Hansen, T. and Pedersen, O. and Zeitler, P. and Dabelea, D. and Abecasis, G. and Bell, G. I. and Cox, N. J. and Seielstad, M. and Sladek, R. and Meigs, J. B. and Rich, S. S. and Rotter, J. I. and Altshuler, D. and Burtt, N. P. and Scott, L. J. and Morris, A. P. and Florez, J. C. and McCarthy, M. I. and Boehnke, M.}
}
@article {8518,
	title = {{Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group},
	journal = {Am J Hypertens},
	volume = {32},
	year = {2019},
	month = {11},
	pages = {1146{\textendash}1153},
	abstract = {{Only a handful of genetic discovery efforts in apparent treatment-resistant hypertension (aTRH) have been described.\ We conducted a case-control genome-wide association study of aTRH among persons treated for hypertension, using data from 10 cohorts of European ancestry (EA) and 5 cohorts of African ancestry (AA). Cases were treated with 3 different antihypertensive medication classes and had blood pressure (BP) above goal (systolic BP {\^a}{\textperthousand}{\textyen} 140 mm Hg and/or diastolic BP {\^a}{\textperthousand}{\textyen} 90 mm Hg) or 4 or more medication classes regardless of BP control (nEA = 931},
	author = {Irvin, M. R. and Sitlani, C. M. and Floyd, J. S. and Psaty, B. M. and Bis, J. C. and Wiggins, K. L. and Whitsel, E. A. and Sturmer, T. and Stewart, J. and Raffield, L. and Sun, F. and Liu, C. T. and Xu, H. and Cupples, A. L. and Tanner, R. M. and Rossing, P. and Smith, A. and Zilh?o, N. R. and Launer, L. J. and Noordam, R. and Rotter, J. I. and Yao, J. and Li, X. and Guo, X. and Limdi, N. and Sundaresan, A. and Lange, L. and Correa, A. and Stott, D. J. and Ford, I. and Jukema, J. W. and Gudnason, V. and Mook-Kanamori, D. O. and Trompet, S. and Palmas, W. and Warren, H. R. and Hellwege, J. N. and Giri, A. and O{\textquoteright}Donnell, C. and Hung, A. M. and Edwards, T. L. and Ahluwalia, T. S. and Arnett, D. K. and Avery, C. L.}
}
@article {8636,
	title = {{Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {12},
	pages = {1314{\textendash}1332},
	abstract = {Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to  1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency {\^a}{\textperthousand}¤ 0.01) variant BP associations (P < 5 {\~A}{\textemdash} 10-8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44\% coding) were  8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.},
	author = {Surendran, P. and Feofanova, E. V. and Lahrouchi, N. and Ntalla, I. and Karthikeyan, S. and Cook, J. and Chen, L. and Mifsud, B. and Yao, C. and Kraja, A. T. and Cartwright, J. H. and Hellwege, J. N. and Giri, A. and Tragante, V. and Thorleifsson, G. and Liu, D. J. and Prins, B. P. and Stewart, I. D. and Cabrera, C. P. and Eales, J. M. and Akbarov, A. and Auer, P. L. and Bielak, L. F. and Bis, J. C. and Braithwaite, V. S. and Brody, J. A. and Daw, E. W. and Warren, H. R. and Drenos, F. and Nielsen, S. F. and Faul, J. D. and Fauman, E. B. and Fava, C. and Ferreira, T. and Foley, C. N. and Franceschini, N. and Gao, H. and Giannakopoulou, O. and Giulianini, F. and Gudbjartsson, D. F. and Guo, X. and Harris, S. E. and Havulinna, A. S. and Helgadottir, A. and Huffman, J. E. and Hwang, S. J. and Kanoni, S. and Kontto, J. and Larson, M. G. and Li-Gao, R. and Lindstr?m, J. and Lotta, L. A. and Lu, Y. and Luan, J. and Mahajan, A. and Malerba, G. and Masca, N. G. D. and Mei, H. and Menni, C. and Mook-Kanamori, D. O. and Mosen-Ansorena, D. and M?ller-Nurasyid, M. and Par?, G. and Paul, D. S. and Perola, M. and Poveda, A. and Rauramaa, R. and Richard, M. and Richardson, T. G. and Sep?lveda, N. and Sim, X. and Smith, A. V. and Smith, J. A. and Staley, J. R. and Stan?kov?, A. and Sulem, P. and Th?riault, S. and Thorsteinsdottir, U. and Trompet, S. and Varga, T. V. and Velez Edwards, D. R. and Veronesi, G. and Weiss, S. and Willems, S. M. and Yao, J. and Young, R. and Yu, B. and Zhang, W. and Zhao, J. H. and Zhao, W. and Zhao, W. and Evangelou, E. and Aeschbacher, S. and Asllanaj, E. and Blankenberg, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Brandslund, I. and Braund, P. S. and Burgess, S. and Cho, K. and Christensen, C. and Connell, J. and Mutsert, R. and Dominiczak, A. F. and D?rr, M. and Eiriksdottir, G. and Farmaki, A. E. and Gaziano, J. M. and Grarup, N. and Grove, M. L. and Hallmans, G. and Hansen, T. and Have, C. T. and Heiss, G. and J?rgensen, M. E. and Jousilahti, P. and Kajantie, E. and Kamat, M. and K?r?j?m?ki, A. and Karpe, F. and Koistinen, H. A. and Kovesdy, C. P. and Kuulasmaa, K. and Laatikainen, T. and Lannfelt, L. and Lee, I. T. and Lee, W. J. and Linneberg, A. and Martin, L. W. and Moitry, M. and Nadkarni, G. and Neville, M. J. and Palmer, C. N. A. and Papanicolaou, G. J. and Pedersen, O. and Peters, J. and Poulter, N. and Rasheed, A. and Rasmussen, K. L. and Rayner, N. W. and M?gi, R. and Renstr?m, F. and Rettig, R. and Rossouw, J. and Schreiner, P. J. and Sever, P. S. and Sigurdsson, E. L. and Skaaby, T. and Sun, Y. V. and Sundstrom, J. and Thorgeirsson, G. and Esko, T. and Trabetti, E. and Tsao, P. S. and Tuomi, T. and Turner, S. T. and Tzoulaki, I. and Vaartjes, I. and Vergnaud, A. C. and Willer, C. J. and Wilson, P. W. F. and Witte, D. R. and Yonova-Doing, E. and Zhang, H. and Aliya, N. and Almgren, P. and Amouyel, P. and Asselbergs, F. W. and Barnes, M. R. and Blakemore, A. I. and Boehnke, M. and Bots, M. L. and Bottinger, E. P. and Buring, J. E. and Chambers, J. C. and Chen, Y. I. and Chowdhury, R. and Conen, D. and Correa, A. and Davey Smith, G. and Boer, R. A. and Deary, I. J. and Dedoussis, G. and Deloukas, P. and Di Angelantonio, E. and Elliott, P. and Felix, S. B. and Ferri?res, J. and Ford, I. and Fornage, M. and Franks, P. W. and Franks, S. and Frossard, P. and Gambaro, G. and Gaunt, T. R. and Groop, L. and Gudnason, V. and Harris, T. B. and Hayward, C. and Hennig, B. J. and Herzig, K. H. and Ingelsson, E. and Tuomilehto, J. and J?rvelin, M. R. and Jukema, J. W. and Kardia, S. L. R. and Kee, F. and Kooner, J. S. and Kooperberg, C. and Launer, L. J. and Lind, L. and Loos, R. J. F. and Majumder, A. A. S. and Laakso, M. and McCarthy, M. I. and Melander, O. and Mohlke, K. L. and Murray, A. D. and Nordestgaard, B. G. and Orho-Melander, M. and Packard, C. J. and Padmanabhan, S. and Palmas, W. and Polasek, O. and Porteous, D. J. and Prentice, A. M. and Province, M. A. and Relton, C. L. and Rice, K. and Ridker, P. M. and Rolandsson, O. and Rosendaal, F. R. and Rotter, J. I. and Rudan, I. and Salomaa, V. and Samani, N. J. and Sattar, N. and Sheu, W. H. and Smith, B. H. and Soranzo, N. and Spector, T. D. and Starr, J. M. and Sebert, S. and Taylor, K. D. and Lakka, T. A. and Timpson, N. J. and Tobin, M. D. and van der Harst, P. and van der Meer, P. and Ramachandran, V. S. and Verweij, N. and Virtamo, J. and V?lker, U. and Weir, D. R. and Zeggini, E. and Charchar, F. J. and Wareham, N. J. and Langenberg, C. and Tomaszewski, M. and Butterworth, A. S. and Caulfield, M. J. and Danesh, J. and Edwards, T. L. and Holm, H. and Hung, A. M. and Lindgren, C. M. and Liu, C. and Manning, A. K. and Morris, A. P. and Morrison, A. C. and O{\textquoteright}Donnell, C. J. and Psaty, B. M. and Saleheen, D. and Stefansson, K. and Boerwinkle, E. and Chasman, D. I. and Levy, D. and Newton-Cheh, C. and Munroe, P. B. and Howson, J. M. M. and de Boer, R. A. and van der Harst, P. and van der Meer, P. and Verweij, N. and Butterworth, A. S. and Danesh, J. and Langenberg, C. and Deloukas, P. and McCarthy, M. I. and Franks, P. W. and Rolandsson, O. and Wareham, N. J. and Prins, B. P. and Zeggini, E. and Hellwege, J. N. and Giri, A. and Edwards, D. R. V. and Cho, K. and Gaziano, J. M. and Kovesdy, C. P. and Sun, Y. V. and Tsao, P. S. and Wilson, P. W. F. and Edwards, T. L. and Hung, A. M. and O{\textquoteright}Donnell, C. J.}
}
@article {8453,
	title = {{Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {Sep},
	pages = {969{\textendash}983},
	abstract = {Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for association using annotation information), a scalable and powerful RV association test method that effectively incorporates both variant categories and multiple complementary annotations using a dynamic weighting scheme. For the latter, we introduce {\textquoteright}annotation principal components{\textquoteright}, multidimensional summaries of in silico variant annotations. STAAR accounts for population structure and relatedness and is scalable for analyzing very large cohort and biobank whole-genome sequencing studies of continuous and dichotomous traits. We applied STAAR to identify RVs associated with four lipid traits in 12,316 discovery and 17,822 replication samples from the Trans-Omics for Precision Medicine Program. We discovered and replicated new RV associations, including disruptive missense RVs of NPC1L1 and an intergenic region near APOC1P1 associated with low-density lipoprotein cholesterol.},
	author = {Li, X. and Li, Z. and Zhou, H. and Gaynor, S. M. and Liu, Y. and Chen, H. and Sun, R. and Dey, R. and Arnett, D. K. and Aslibekyan, S. and Ballantyne, C. M. and Bielak, L. F. and Blangero, J. and Boerwinkle, E. and Bowden, D. W. and Broome, J. G. and Conomos, M. P. and Correa, A. and Cupples, L. A. and Curran, J. E. and Freedman, B. I. and Guo, X. and Hindy, G. and Irvin, M. R. and Kardia, S. L. R. and Kathiresan, S. and Khan, A. T. and Kooperberg, C. L. and Laurie, C. C. and Liu, X. S. and Mahaney, M. C. and Manichaikul, A. W. and Martin, L. W. and Mathias, R. A. and McGarvey, S. T. and Mitchell, B. D. and Montasser, M. E. and Moore, J. E. and Morrison, A. C. and O{\textquoteright}Connell, J. R. and Palmer, N. D. and Pampana, A. and Peralta, J. M. and Peyser, P. A. and Psaty, B. M. and Redline, S. and Rice, K. M. and Rich, S. S. and Smith, J. A. and Tiwari, H. K. and Tsai, M. Y. and Vasan, R. S. and Wang, F. F. and Weeks, D. E. and Weng, Z. and Wilson, J. G. and Yanek, L. R. and Neale, B. M. and Sunyaev, S. R. and Abecasis, G. R. and Rotter, J. I. and Willer, C. J. and Peloso, G. M. and Natarajan, P. and Lin, X. and Abe, N. and Abecasis, G. R. and Aguet, F. and Albert, C. and Almasy, L. and Alonso, A. and Ament, S. and Anderson, P. and Anugu, P. and Applebaum-Bowden, D. and Ardlie, K. and Arking, D. and Arnett, D. K. and Ashley-Koch, A. and Aslibekyan, S. and Assimes, T. and Auer, P. and Avramopoulos, D. and Barnard, J. and Barnes, K. and Barr, R. G. and Barron-Casella, E. and Barwick, L. and Beaty, T. and Beck, G. and Becker, D. and Becker, L. and Beer, R. and Beitelshees, A. and Benjamin, E. and Benos, T. and Bezerra, M. and Bielak, L. F. and Bis, J. and Blackwell, T. and Blangero, J. and Boerwinkle, E. and Bowden, D. W. and Bowler, R. and Brody, J. and Broeckel, U. and Broome, J. G. and Bunting, K. and Burchard, E. and Bustamante, C. and Buth, E. and Cade, B. and Cardwell, J. and Carey, V. and Carty, C. and Casaburi, R. and Casella, J. and Castaldi, P. and Chaffin, M. and Chang, C. and Chang, Y. C. and Chasman, D. and Chavan, S. and Chen, B. J. and Chen, W. M. and Chen, Y. I. and Cho, M. and Choi, S. H. and Chuang, L. M. and Chung, M. and Chung, R. H. and Clish, C. and Comhair, S. and Conomos, M. P. and Cornell, E. and Correa, A. and Crandall, C. and Crapo, J. and Cupples, L. A. and Curran, J. E. and Curtis, J. and Custer, B. and Damcott, C. and Darbar, D. and Das, S. and David, S. and Davis, C. and Daya, M. and de Andrade, M. and Fuentes, L. L. and DeBaun, M. and Deka, R. and DeMeo, D. and Devine, S. and Duan, Q. and Duggirala, R. and Durda, J. P. and Dutcher, S. and Eaton, C. and Ekunwe, L. and El Boueiz, A. and Ellinor, P. and Emery, L. and Erzurum, S. and Farber, C. and Fingerlin, T. and Flickinger, M. and Fornage, M. and Franceschini, N. and Frazar, C. and Fu, M. and Fullerton, S. M. and Fulton, L. and Gabriel, S. and Gan, W. and Gao, S. and Gao, Y. and Gass, M. and Gelb, B. and Geng, X. P. and Geraci, M. and Germer, S. and Gerszten, R. and Ghosh, A. and Gibbs, R. and Gignoux, C. and Gladwin, M. and Glahn, D. and Gogarten, S. and Gong, D. W. and Goring, H. and Graw, S. and Grine, D. and Gu, C. C. and Guan, Y. and Guo, X. and Gupta, N. and Haessler, J. and Hall, M. and Harris, D. and Hawley, N. L. and He, J. and Heckbert, S. and Hernandez, R. and Herrington, D. and Hersh, C. and Hidalgo, B. and Hixson, J. and Hobbs, B. and Hokanson, J. and Hong, E. and Hoth, K. and Hsiung, C. A. and Hung, Y. J. and Huston, H. and Hwu, C. M. and Irvin, M. R. and Jackson, R. and Jain, D. and Jaquish, C. and Jhun, M. A. and Johnsen, J. and Johnson, A. and Johnson, C. and Johnston, R. and Jones, K. and Kang, H. M. and Kaplan, R. and Kardia, S. L. R. and Kathiresan, S. and Kelly, S. and Kenny, E. and Kessler, M. and Khan, A. T. and Kim, W. and Kinney, G. and Konkle, B. and Kooperberg, C. L. and Kramer, H. and Lange, C. and Lange, E. and Lange, L. and Laurie, C. C. and Laurie, C. and LeBoff, M. and Lee, J. and Lee, S. S. and Lee, W. J. and LeFaive, J. and Levine, D. and Levy, D. and Lewis, J. and Li, X. and Li, Y. and Lin, H. and Lin, H. and Lin, K. H. and Lin, X. and Liu, S. and Liu, Y. and Liu, Y. and Loos, R. J. F. and Lubitz, S. and Lunetta, K. and Luo, J. and Mahaney, M. C. and Make, B. and Manichaikul, A. W. and Manson, J. and Margolin, L. and Martin, L. W. and Mathai, S. and Mathias, R. A. and May, S. and McArdle, P. and McDonald, M. L. and McFarland, S. and McGarvey, S. T. and McGoldrick, D. and McHugh, C. and Mei, H. and Mestroni, L. and Meyers, D. A. and Mikulla, J. and Min, N. and Minear, M. and Minster, R. L. and Mitchell, B. D. and Moll, M. and Montasser, M. E. and Montgomery, C. and Moscati, A. and Musani, S. and Mwasongwe, S. and Mychaleckyj, J. C. and Nadkarni, G. and Naik, R. and Naseri, T. and Natarajan, P. and Nekhai, S. and Nelson, S. C. and Neltner, B. and Nickerson, D. and North, K. and O{\textquoteright}Connell, J. R. and O{\textquoteright}Connor, T. and Ochs-Balcom, H. and Paik, D. and Palmer, N. D. and Pankow, J. and Papanicolaou, G. and Parsa, A. and Peralta, J. M. and Perez, M. and Perry, J. and Peters, U. and Peyser, P. A. and Phillips, L. S. and Pollin, T. and Post, W. and Becker, J. P. and Boorgula, M. P. and Preuss, M. and Psaty, B. M. and Qasba, P. and Qiao, D. and Qin, Z. and Rafaels, N. and Raffield, L. and Vasan, R. S. and Rao, D. C. and Rasmussen-Torvik, L. and Ratan, A. and Redline, S. and Reed, R. and Regan, E. and Reiner, A. and Reupena, M. S. and Rice, K. M. and Rich, S. S. and Roden, D. and Roselli, C. and Rotter, J. I. and Ruczinski, I. and Russell, P. and Ruuska, S. and Ryan, K. and Sabino, E. C. and Saleheen, D. and Salimi, S. and Salzberg, S. and Sandow, K. and Sankaran, V. G. and Scheller, C. and Schmidt, E. and Schwander, K. and Schwartz, D. and Sciurba, F. and Seidman, C. and Seidman, J. and Sheehan, V. and Sherman, S. L. and Shetty, A. and Shetty, A. and Sheu, W. H. and Shoemaker, M. B. and Silver, B. and Silverman, E. and Smith, J. A. and Smith, J. and Smith, N. and Smith, T. and Smoller, S. and Snively, B. and Snyder, M. and Sofer, T. and Sotoodehnia, N. and Stilp, A. M. and Storm, G. and Streeten, E. and Su, J. L. and Sung, Y. J. and Sylvia, J. and Szpiro, A. and Sztalryd, C. and Taliun, D. and Tang, H. and Taub, M. and Taylor, K. D. and Taylor, M. and Taylor, S. and Telen, M. and Thornton, T. A. and Threlkeld, M. and Tinker, L. and Tirschwell, D. and Tishkoff, S. and Tiwari, H. K. and Tong, C. and Tracy, R. and Tsai, M. Y. and Vaidya, D. and Van Den Berg, D. and VandeHaar, P. and Vrieze, S. and Walker, T. and Wallace, R. and Walts, A. and Wang, F. F. and Wang, H. and Watson, K. and Weeks, D. E. and Weir, B. and Weiss, S. and Weng, L. C. and Wessel, J. and Willer, C. J. and Williams, K. and Williams, L. K. and Wilson, C. and Wilson, J. G. and Wong, Q. and Wu, J. and Xu, H. and Yanek, L. R. and Yang, I. and Yang, R. and Zaghloul, N. and Zekavat, M. and Zhang, Y. and Zhao, S. X. and Zhao, W. and Zhi, D. and Zhou, X. and Zhu, X. and Zody, M. and Zoellner, S. and Abdalla, M. and Abecasis, G. R. and Arnett, D. K. and Aslibekyan, S. and Assimes, T. and Atkinson, E. and Ballantyne, C. M. and Beitelshees, A. and Bielak, L. F. and Bis, J. and Bodea, C. and Boerwinkle, E. and Bowden, D. W. and Brody, J. and Cade, B. and Carlson, J. and Chang, I. S. and Chen, Y. I. and Chun, S. and Chung, R. H. and Conomos, M. P. and Correa, A. and Cupples, L. A. and Damcott, C. and de Vries, P. and Do, R. and Elliott, A. and Fu, M. and Ganna, A. and Gong, D. W. and Graham, S. and Haas, M. and Haring, B. and He, J. and Heckbert, S. and Himes, B. and Hixson, J. and Irvin, M. R. and Jain, D. and Jarvik, G. and Jhun, M. A. and Jiang, J. and Jun, G. and Kalyani, R. and Kardia, S. L. R. and Kathiresan, S. and Khera, A. and Klarin, D. and Kooperberg, C. L. and Kral, B. and Lange, L. and Laurie, C. C. and Laurie, C. and Lemaitre, R. and Li, Z. and Li, X. and Lin, X. and Mahaney, M. C. and Manichaikul, A. W. and Martin, L. W. and Mathias, R. A. and Mathur, R. and McGarvey, S. T. and McHugh, C. and McLenithan, J. and Mikulla, J. and Mitchell, B. D. and Montasser, M. E. and Moran, A. and Morrison, A. C. and Nakao, T. and Natarajan, P. and Nickerson, D. and North, K. and O{\textquoteright}Connell, J. R. and O{\textquoteright}Donnell, C. and Palmer, N. D. and Pampana, A. and Patel, A. and Peloso, G. M. and Perry, J. and Peters, U. and Peyser, P. A. and Pirruccello, J. and Pollin, T. and Preuss, M. and Psaty, B. M. and Rao, D. C. and Redline, S. and Reed, R. and Reiner, A. and Rich, S. S. and Rosenthal, S. and Rotter, J. I. and Schoenberg, J. and Selvaraj, M. S. and Sheu, W. H. and Smith, J. A. and Sofer, T. and Stilp, A. M. and Sunyaev, S. R. and Surakka, I. and Sztalryd, C. and Tang, H. and Taylor, K. D. and Tsai, M. Y. and Uddin, M. M. and Urbut, S. and Verbanck, M. and Von Holle, A. and Wang, H. and Wang, F. F. and Wiggins, K. and Willer, C. J. and Wilson, J. G. and Wolford, B. and Xu, H. and Yanek, L. R. and Zaghloul, N. and Zekavat, M. and Zhang, J.}
}
@article {8454,
	title = {{Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke},
	journal = {Stroke},
	volume = {51},
	year = {2020},
	month = {Aug},
	pages = {2454{\textendash}2463},
	abstract = {Stroke is a complex disease with multiple genetic and environmental risk factors. Blacks endure a nearly 2-fold greater risk of stroke and are 2{\~A}{\textemdash} to 3{\~A}{\textemdash} more likely to die from stroke than European Americans.\ The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts.\ In meta-analyses, we identified one single nucleotide polymorphism (rs55931441) near the HNF1A gene that reached genome-wide significance (P=4.62{\~A}{\textemdash}10-8) and an additional 29 variants with suggestive evidence of association (P<1{\~A}{\textemdash}10-6), representing 24 unique loci. For validation, a look-up analysis for a 100 kb region flanking the COMPASS single nucleotide polymorphism was performed in SiGN (Stroke Genetics Network) Europeans, SiGN Hispanics, and METASTROKE (Europeans). Using a stringent Bonferroni correction P value of 2.08{\~A}{\textemdash}10-3 (0.05/24 unique loci), we were able to validate associations at the HNF1A locus in both SiGN (P=8.18{\~A}{\textemdash}10-4) and METASTROKE (P=1.72{\~A}{\textemdash}10-3) European populations. Overall, 16 of 24 loci showed evidence for validation across multiple populations. Previous studies have reported associations between variants in the HNF1A gene and lipids, C-reactive protein, and risk of coronary artery disease and stroke. Suggestive associations with variants in the SFXN4 and TMEM108 genes represent potential novel ischemic stroke loci.\ These findings represent the most thorough investigation of genetic determinants of stroke in individuals of African descent, to date.},
	author = {Keene, K. L. and Hyacinth, H. I. and Bis, J. C. and Kittner, S. J. and Mitchell, B. D. and Cheng, Y. C. and Pare, G. and Chong, M. and O{\textquoteright}Donnell, M. and Meschia, J. F. and Chen, W. M. and Sale, M. M. and Rich, S. S. and Nalls, M. A. and Zonderman, A. B. and Evans, M. K. and Wilson, J. G. and Correa, A. and Markus, H. S. and Traylor, M. and Lewis, C. M. and Carty, C. L. and Reiner, A. and Haessler, J. and Langefeld, C. D. and Gottesman, R. and Mosley, T. H. and Woo, D. and Yaffe, K. and Liu, Y. and Longstreth, W. T. and Psaty, B. M. and Kooperberg, C. and Lange, L. A. and Sacco, R. and Rundek, T. and Lee, J. M. and Cruchaga, C. and Furie, K. L. and Arnett, D. K. and Benavente, O. R. and Grewal, R. P. and Peddareddygari, L. R. and Dichgans, M. and Malik, R. and Worrall, B. B. and Fornage, M.}
}
@article {8992,
	title = {{The power of genetic diversity in genome-wide association studies of lipids},
	journal = {Nature},
	volume = {600},
	year = {2021},
	month = {Dec},
	pages = {675{\textendash}679},
	abstract = {application of polygenic scores in clinical practice.},
	author = {Graham, S. E. and Clarke, S. L. and Wu, K. H. and Kanoni, S. and Zajac, G. J. M. and Ramdas, S. and Surakka, I. and Ntalla, I. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Hwang, M. Y. and Han, S. and Narita, A. and Choudhury, A. and Bentley, A. R. and Ekoru, K. and Verma, A. and Trivedi, B. and Martin, H. C. and Hunt, K. A. and Hui, Q. and Klarin, D. and Zhu, X. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Ruotsalainen, S. E. and Havulinna, A. S. and Veturi, Y. and Feng, Q. and Rosenthal, E. A. and Lingren, T. and Pacheco, J. A. and Pendergrass, S. A. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Hindy, G. and Rasheed, A. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Willemsen, G. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Yao, J. and Manichaikul, A. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and K{\r a}rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Sidore, C. and Fiorillo, E. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and M{\o}llehave, L. T. and Thuesen, B. H. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Daw, E. W. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Feitosa, M. F. and Wojczynski, M. K. and Preuss, M. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Kember, R. L. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Leonard, H. L. and Marten, J. and Schmidt, B. and Arendt, M. and Smyth, L. J. and Ca{\~n}adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and Hutri-K{\"a}h{\"o}nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Ahmed, M. and Jackson, A. U. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Chai, X. and Prasad, G. and Lor{\'e}s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Hung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Gorski, M. and Brumat, M. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Xue, C. and Zhang, J. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and Pitk{\"a}nen, N. and Cade, B. E. and Lee, J. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Zimmermann, M. E. and Lee, J. Y. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and Lyytik{\"a}inen, L. P. and Nikus, K. and Cuellar-Partida, G. and Vestergaard, H. and Hildalgo, B. and Giannakopoulou, O. and Cai, Q. and Obura, M. O. and van Setten, J. and Li, X. and Schwander, K. and Terzikhan, N. and Shin, J. H. and Jackson, R. D. and Reiner, A. P. and Martin, L. W. and Chen, Z. and Li, L. and Highland, H. M. and Young, K. L. and Kawaguchi, T. and Thiery, J. and Bis, J. C. and Nadkarni, G. N. and Launer, L. J. and Li, H. and Nalls, M. A. and Raitakari, O. T. and Ichihara, S. and Wild, S. H. and Nelson, C. P. and Campbell, H. and J{\"a}ger, S. and Nabika, T. and Al-Mulla, F. and Niinikoski, H. and Braund, P. S. and Kolcic, I. and Kovacs, P. and Giardoglou, T. and Katsuya, T. and Bhatti, K. F. and de Kleijn, D. and de Borst, G. J. and Kim, E. K. and Adams, H. H. H. and Ikram, M. A. and Zhu, X. and Asselbergs, F. W. and Kraaijeveld, A. O. and Beulens, J. W. J. and Shu, X. O. and Rallidis, L. S. and Pedersen, O. and Hansen, T. and Mitchell, P. and Hewitt, A. W. and K{\"a}h{\"o}nen, M. and P{\'e}russe, L. and Bouchard, C. and Tonjes, A. and Chen, Y. I. and Pennell, C. E. and Mori, T. A. and Lieb, W. and Franke, A. and Ohlsson, C. and Mellstr{\"o}m, D. and Cho, Y. S. and Lee, H. and Yuan, J. M. and Koh, W. P. and Rhee, S. Y. and Woo, J. T. and Heid, I. M. and Stark, K. J. and V{\"o}lzke, H. and Homuth, G. and Evans, M. K. and Zonderman, A. B. and Polasek, O. and Pasterkamp, G. and Hoefer, I. E. and Redline, S. and Pahkala, K. and Oldehinkel, A. J. and Snieder, H. and Biino, G. and Schmidt, R. and Schmidt, H. and Chen, Y. E. and Bandinelli, S. and Dedoussis, G. and Thanaraj, T. A. and Kardia, S. L. R. and Kato, N. and Schulze, M. B. and Girotto, G. and Jung, B. and B{\"o}ger, C. A. and Joshi, P. K. and Bennett, D. A. and De Jager, P. L. and Lu, X. and Mamakou, V. and Brown, M. and Caulfield, M. J. and Munroe, P. B. and Guo, X. and Ciullo, M. and Jonas, J. B. and Samani, N. J. and Kaprio, J. and Pajukanta, P. and Adair, L. S. and Bechayda, S. A. and de Silva, H. J. and Wickremasinghe, A. R. and Krauss, R. M. and Wu, J. Y. and Zheng, W. and den Hollander, A. I. and Bharadwaj, D. and Correa, A. and Wilson, J. G. and Lind, L. and Heng, C. K. and Nelson, A. E. and Golightly, Y. M. and Wilson, J. F. and Penninx, B. and Kim, H. L. and Attia, J. and Scott, R. J. and Rao, D. C. and Arnett, D. K. and Walker, M. and Koistinen, H. A. and Chandak, G. R. and Yajnik, C. S. and Mercader, J. M. and Tusi{\'e}-Luna, T. and Aguilar-Salinas, C. A. and Villalpando, C. G. and Orozco, L. and Fornage, M. and Tai, E. S. and van Dam, R. M. and Lehtim{\"a}ki, T. and Chaturvedi, N. and Yokota, M. and Liu, J. and Reilly, D. F. and McKnight, A. J. and Kee, F. and J{\"o}ckel, K. H. and McCarthy, M. I. and Palmer, C. N. A. and Vitart, V. and Hayward, C. and Simonsick, E. and van Duijn, C. M. and Lu, F. and Qu, J. and Hishigaki, H. and Lin, X. and M{\"a}rz, W. and Parra, E. J. and Cruz, M. and Gudnason, V. and Tardif, J. C. and Lettre, G. and {\textquoteright}t Hart, L. M. and Elders, P. J. M. and Damrauer, S. M. and Kumari, M. and Kivimaki, M. and van der Harst, P. and Spector, T. D. and Loos, R. J. F. and Province, M. A. and Psaty, B. M. and Brandslund, I. and Pramstaller, P. P. and Christensen, K. and Ripatti, S. and Wid{\'e}n, E. and Hakonarson, H. and Grant, S. F. A. and Kiemeney, L. A. L. M. and de Graaf, J. and Loeffler, M. and Kronenberg, F. and Gu, D. and Erdmann, J. and Schunkert, H. and Franks, P. W. and Linneberg, A. and Jukema, J. W. and Khera, A. V. and M{\"a}nnikk{\"o}, M. and Jarvelin, M. R. and Kutalik, Z. and Cucca, F. and Mook-Kanamori, D. O. and van Dijk, K. W. and Watkins, H. and Strachan, D. P. and Grarup, N. and Sever, P. and Poulter, N. and Rotter, J. I. and Dantoft, T. M. and Karpe, F. and Neville, M. J. and Timpson, N. J. and Cheng, C. Y. and Wong, T. Y. and Khor, C. C. and Sabanayagam, C. and Peters, A. and Gieger, C. and Hattersley, A. T. and Pedersen, N. L. and Magnusson, P. K. E. and Boomsma, D. I. and de Geus, E. J. C. and Cupples, L. A. and van Meurs, J. B. J. and Ghanbari, M. and Gordon-Larsen, P. and Huang, W. and Kim, Y. J. and Tabara, Y. and Wareham, N. J. and Langenberg, C. and Zeggini, E. and Kuusisto, J. and Laakso, M. and Ingelsson, E. and Abecasis, G. and Chambers, J. C. and Kooner, J. S. and de Vries, P. S. and Morrison, A. C. and North, K. E. and Daviglus, M. and Kraft, P. and Martin, N. G. and Whitfield, J. B. and Abbas, S. and Saleheen, D. and Walters, R. G. and Holmes, M. V. and Black, C. and Smith, B. H. and Justice, A. E. and Baras, A. and Buring, J. E. and Ridker, P. M. and Chasman, D. I. and Kooperberg, C. and Wei, W. Q. and Jarvik, G. P. and Namjou, B. and Hayes, M. G. and Ritchie, M. D. and Jousilahti, P. and Salomaa, V. and Hveem, K. and {\r A}svold, B. O. and Kubo, M. and Kamatani, Y. and Okada, Y. and Murakami, Y. and Thorsteinsdottir, U. and Stefansson, K. and Ho, Y. L. and Lynch, J. A. and Rader, D. J. and Tsao, P. S. and Chang, K. M. and Cho, K. and O{\textquoteright}Donnell, C. J. and Gaziano, J. M. and Wilson, P. and Rotimi, C. N. and Hazelhurst, S. and Ramsay, M. and Trembath, R. C. and van Heel, D. A. and Tamiya, G. and Yamamoto, M. and Kim, B. J. and Mohlke, K. L. and Frayling, T. M. and Hirschhorn, J. N. and Kathiresan, S. and Boehnke, M. and Natarajan, P. and Peloso, G. M. and Brown, C. D. and Morris, A. P. and Assimes, T. L. and Deloukas, P. and Sun, Y. V. and Willer, C. J.}
}
@article {8829,
	title = {{Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis},
	journal = {Circ Genom Precis Med},
	volume = {14},
	year = {2021},
	month = {Aug},
	pages = {e003300},
	abstract = {Alterations 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 and rare genetic variation at a population level are poorly understood.\ Using a discovery sample of 29 000 individuals with whole-genome sequencing from Trans-Omics in Precision Medicine and replication in nearly 100 000 with whole-exome sequencing from the UK Biobank and MyCode, we examined associations between low-frequency and rare coding variants with 5 routinely measured electrocardiographic traits (RR, P-wave, PR, and QRS intervals and corrected QT interval).\ ), a marker of SCD risk. Incomplete penetrance of such deleterious variation was common as over 70\% of carriers had normal electrocardiographic intervals.\ Our findings indicate that large-scale high-depth sequence data and electrocardiographic analysis identifies monogenic arrhythmia susceptibility genes and rare variants with large effects. Known pathogenic variation in conventional arrhythmia and SCD genes exhibited incomplete penetrance and accounted for only a small fraction of marked electrocardiographic interval prolongation.},
	author = {Choi, S. H. and Jurgens, S. J. and Haggerty, C. M. and Hall, A. W. and Halford, J. L. and Morrill, V. N. and Weng, L. C. and Lagerman, B. and Mirshahi, T. and Pettinger, M. and Guo, X. and Lin, H. J. and Alonso, A. and Soliman, E. Z. and Kornej, J. and Lin, H. and Moscati, A. and Nadkarni, G. N. and Brody, J. A. and Wiggins, K. L. and Cade, B. E. and Lee, J. and Austin-Tse, C. and Blackwell, T. and Chaffin, M. D. and Lee, C. J. and Rehm, H. L. and Roselli, C. and Redline, S. and Mitchell, B. D. and Sotoodehnia, N. and Psaty, B. M. and Heckbert, S. R. and Loos, R. J. F. and Vasan, R. S. and Benjamin, E. J. and Correa, A. and Boerwinkle, E. and Arking, D. E. and Rotter, J. I. and Rich, S. S. and Whitsel, E. A. and Perez, M. and Kooperberg, C. and Fornwalt, B. K. and Lunetta, K. L. and Ellinor, P. T. and Lubitz, S. A.}
}
@article {8772,
	title = {{The trans-ancestral genomic architecture of glycemic traits},
	journal = {Nat Genet},
	volume = {53},
	year = {2021},
	month = {06},
	pages = {840{\textendash}860},
	abstract = {10.1038/s41588-021-00852-9Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30\% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 {\texttimes} 10-8), 80\% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99\% credible sets by a median of 37.5\%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.},
	author = {Chen, J. and Spracklen, C. N. and Marenne, G. and Varshney, A. and Corbin, L. J. and Luan, J. and Willems, S. M. and Wu, Y. and Zhang, X. and Horikoshi, M. and Boutin, T. S. and M{\"a}gi, R. and Waage, J. and Li-Gao, R. and Chan, K. H. K. and Yao, J. and Anasanti, M. D. and Chu, A. Y. and Claringbould, A. and Heikkinen, J. and Hong, J. and Hottenga, J. J. and Huo, S. and Kaakinen, M. A. and Louie, T. and M{\"a}rz, W. and Moreno-Macias, H. and Ndungu, A. and Nelson, S. C. and Nolte, I. M. and North, K. E. and Raulerson, C. K. and Ray, D. and Rohde, R. and Rybin, D. and Schurmann, C. and Sim, X. and Southam, L. and Stewart, I. D. and Wang, C. A. and Wang, Y. and Wu, P. and Zhang, W. and Ahluwalia, T. S. and Appel, E. V. R. and Bielak, L. F. and Brody, J. A. and Burtt, N. P. and Cabrera, C. P. and Cade, B. E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chen, C. H. and Chen, B. H. and Chitrala, K. N. and Chiu, Y. F. and de Haan, H. G. and Delgado, G. E. and Demirkan, A. and Duan, Q. and Engmann, J. and Fatumo, S. A. and Gay{\'a}n, J. and Giulianini, F. and Gong, J. H. and Gustafsson, S. and Hai, Y. and Hartwig, F. P. and He, J. and Heianza, Y. and Huang, T. and Huerta-Chagoya, A. and Hwang, M. Y. and Jensen, R. A. and Kawaguchi, T. and Kentistou, K. A. and Kim, Y. J. and Kleber, M. E. and Kooner, I. K. and Lai, S. and Lange, L. A. and Langefeld, C. D. and Lauzon, M. and Li, M. and Ligthart, S. and Liu, J. and Loh, M. and Long, J. and Lyssenko, V. and Mangino, M. and Marzi, C. and Montasser, M. E. and Nag, A. and Nakatochi, M. and Noce, D. and Noordam, R. and Pistis, G. and Preuss, M. and Raffield, L. and Rasmussen-Torvik, L. J. and Rich, S. S. and Robertson, N. R. and Rueedi, R. and Ryan, K. and Sanna, S. and Saxena, R. and Schraut, K. E. and Sennblad, B. and Setoh, K. and Smith, A. V. and Spars{\o}, T. and Strawbridge, R. J. and Takeuchi, F. and Tan, J. and Trompet, S. and van den Akker, E. and van der Most, P. J. and Verweij, N. and Vogel, M. and Wang, H. and Wang, C. and Wang, N. and Warren, H. R. and Wen, W. and Wilsgaard, T. and Wong, A. and Wood, A. R. and Xie, T. and Zafarmand, M. H. and Zhao, J. H. and Zhao, W. and Amin, N. and Arzumanyan, Z. and Astrup, A. and Bakker, S. J. L. and Baldassarre, D. and Beekman, M. and Bergman, R. N. and Bertoni, A. and Bl{\"u}her, M. and Bonnycastle, L. L. and Bornstein, S. R. and Bowden, D. W. and Cai, Q. and Campbell, A. and Campbell, H. and Chang, Y. C. and de Geus, E. J. C. and Dehghan, A. and Du, S. and Eiriksdottir, G. and Farmaki, A. E. and Fr{\r a}nberg, M. and Fuchsberger, C. and Gao, Y. and Gjesing, A. P. and Goel, A. and Han, S. and Hartman, C. A. and Herder, C. and Hicks, A. A. and Hsieh, C. H. and Hsueh, W. A. and Ichihara, S. and Igase, M. and Ikram, M. A. and Johnson, W. C. and J{\o}rgensen, M. E. and Joshi, P. K. and Kalyani, R. R. and Kandeel, F. R. and Katsuya, T. and Khor, C. C. and Kiess, W. and Kolcic, I. and Kuulasmaa, T. and Kuusisto, J. and L{\"a}ll, K. and Lam, K. and Lawlor, D. A. and Lee, N. R. and Lemaitre, R. N. and Li, H. and Lin, S. Y. and Lindstr{\"o}m, J. and Linneberg, A. and Liu, J. and Lorenzo, C. and Matsubara, T. and Matsuda, F. and Mingrone, G. and Mooijaart, S. and Moon, S. and Nabika, T. and Nadkarni, G. N. and Nadler, J. L. and Nelis, M. and Neville, M. J. and Norris, J. M. and Ohyagi, Y. and Peters, A. and Peyser, P. A. and Polasek, O. and Qi, Q. and Raven, D. and Reilly, D. F. and Reiner, A. and Rivideneira, F. and Roll, K. and Rudan, I. and Sabanayagam, C. and Sandow, K. and Sattar, N. and Sch{\"u}rmann, A. and Shi, J. and Stringham, H. M. and Taylor, K. D. and Teslovich, T. M. and Thuesen, B. and Timmers, P. R. H. J. and Tremoli, E. and Tsai, M. Y. and Uitterlinden, A. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and Van Vliet-Ostaptchouk, J. V. and Vangipurapu, J. and Vestergaard, H. and Wang, T. and Willems van Dijk, K. and Zemunik, T. and Abecasis, G. R. and Adair, L. S. and Aguilar-Salinas, C. A. and Alarc{\'o}n-Riquelme, M. E. and An, P. and Aviles-Santa, L. and Becker, D. M. and Beilin, L. J. and Bergmann, S. and Bisgaard, H. and Black, C. and Boehnke, M. and Boerwinkle, E. and B{\"o}hm, B. O. and B{\o}nnelykke, K. and Boomsma, D. I. and Bottinger, E. P. and Buchanan, T. A. and Canouil, M. and Caulfield, M. J. and Chambers, J. C. and Chasman, D. I. and Chen, Y. I. and Cheng, C. Y. and Collins, F. S. and Correa, A. and Cucca, F. and de Silva, H. J. and Dedoussis, G. and Elmst{\r a}hl, S. and Evans, M. K. and Ferrannini, E. and Ferrucci, L. and Florez, J. C. and Franks, P. W. and Frayling, T. M. and Froguel, P. and Gigante, B. and Goodarzi, M. O. and Gordon-Larsen, P. and Grallert, H. and Grarup, N. and Grimsgaard, S. and Groop, L. and Gudnason, V. and Guo, X. and Hamsten, A. and Hansen, T. and Hayward, C. and Heckbert, S. R. and Horta, B. L. and Huang, W. and Ingelsson, E. and James, P. S. and Jarvelin, M. R. and Jonas, J. B. and Jukema, J. W. and Kaleebu, P. and Kaplan, R. and Kardia, S. L. R. and Kato, N. and Keinanen-Kiukaanniemi, S. M. and Kim, B. J. and Kivimaki, M. and Koistinen, H. A. and Kooner, J. S. and K{\"o}rner, A. and Kovacs, P. and Kuh, D. and Kumari, M. and Kutalik, Z. and Laakso, M. and Lakka, T. A. and Launer, L. J. and Leander, K. and Li, H. and Lin, X. and Lind, L. and Lindgren, C. and Liu, S. and Loos, R. J. F. and Magnusson, P. K. E. and Mahajan, A. and Metspalu, A. and Mook-Kanamori, D. O. and Mori, T. A. and Munroe, P. B. and Nj{\o}lstad, I. and O{\textquoteright}Connell, J. R. and Oldehinkel, A. J. and Ong, K. K. and Padmanabhan, S. and Palmer, C. N. A. and Palmer, N. D. and Pedersen, O. and Pennell, C. E. and Porteous, D. J. and Pramstaller, P. P. and Province, M. A. and Psaty, B. M. and Qi, L. and Raffel, L. J. and Rauramaa, R. and Redline, S. and Ridker, P. M. and Rosendaal, F. R. and Saaristo, T. E. and Sandhu, M. and Saramies, J. and Schneiderman, N. and Schwarz, P. and Scott, L. J. and Selvin, E. and Sever, P. and Shu, X. O. and Slagboom, P. E. and Small, K. S. and Smith, B. H. and Snieder, H. and Sofer, T. and S{\o}rensen, T. I. A. and Spector, T. D. and Stanton, A. and Steves, C. J. and Stumvoll, M. and Sun, L. and Tabara, Y. and Tai, E. S. and Timpson, N. J. and Tonjes, A. and Tuomilehto, J. and Tusie, T. and Uusitupa, M. and van der Harst, P. and van Duijn, C. and Vitart, V. and Vollenweider, P. and Vrijkotte, T. G. M. and Wagenknecht, L. E. and Walker, M. and Wang, Y. X. and Wareham, N. J. and Watanabe, R. M. and Watkins, H. and Wei, W. B. and Wickremasinghe, A. R. and Willemsen, G. and Wilson, J. F. and Wong, T. Y. and Wu, J. Y. and Xiang, A. H. and Yanek, L. R. and Yengo, L. and Yokota, M. and Zeggini, E. and Zheng, W. and Zonderman, A. B. and Rotter, J. I. and Gloyn, A. L. and McCarthy, M. I. and Dupuis, J. and Meigs, J. B. and Scott, R. A. and Prokopenko, I. and Leong, A. and Liu, C. T. and Parker, S. C. J. and Mohlke, K. L. and Langenberg, C. and Wheeler, E. and Morris, A. P. and Barroso, I. and de Haan, H. G. and van den Akker, E. and van der Most, P. J. and de Geus, E. J. C. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and van Willems van Dijk, K. and de Silva, H. J. and van der Harst, P. and van Duijn, C.}
}
@article {9186,
	title = {{Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways},
	journal = {Nat Commun},
	volume = {13},
	year = {2022},
	month = {09},
	pages = {5144},
	abstract = {250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.},
	author = {Young, W. J. and Lahrouchi, N. and Isaacs, A. and Duong, T. and Foco, L. and Ahmed, F. and Brody, J. A. and Salman, R. and Noordam, R. and Benjamins, J. W. and Haessler, J. and Lyytik{\"a}inen, L. P. and Repetto, L. and Concas, M. P. and van den Berg, M. E. and Weiss, S. and Baldassari, A. R. and Bartz, T. M. and Cook, J. P. and Evans, D. S. and Freudling, R. and Hines, O. and Isaksen, J. L. and Lin, H. and Mei, H. and Moscati, A. and M{\"u}ller-Nurasyid, M. and Nursyifa, C. and Qian, Y. and Richmond, A. and Roselli, C. and Ryan, K. A. and Tarazona-Santos, E. and Th{\'e}riault, S. and van Duijvenboden, S. and Warren, H. R. and Yao, J. and Raza, D. and Aeschbacher, S. and Ahlberg, G. and Alonso, A. and Andreasen, L. and Bis, J. C. and Boerwinkle, E. and Campbell, A. and Catamo, E. and Cocca, M. and Cutler, M. J. and Darbar, D. and De Grandi, A. and De Luca, A. and Ding, J. and Ellervik, C. and Ellinor, P. T. and Felix, S. B. and Froguel, P. and Fuchsberger, C. and G{\"o}gele, M. and Graff, C. and Graff, M. and Guo, X. and Hansen, T. and Heckbert, S. R. and Huang, P. L. and Huikuri, H. V. and Hutri-K{\"a}h{\"o}nen, N. and Ikram, M. A. and Jackson, R. D. and Junttila, J. and Kavousi, M. and Kors, J. A. and Leal, T. P. and Lemaitre, R. N. and Lin, H. J. and Lind, L. and Linneberg, A. and Liu, S. and Macfarlane, P. W. and Mangino, M. and Meitinger, T. and Mezzavilla, M. and Mishra, P. P. and Mitchell, R. N. and Mononen, N. and Montasser, M. E. and Morrison, A. C. and Nauck, M. and Nauffal, V. and Navarro, P. and Nikus, K. and Pare, G. and Patton, K. K. and Pelliccione, G. and Pittman, A. and Porteous, D. J. and Pramstaller, P. P. and Preuss, M. H. and Raitakari, O. T. and Reiner, A. P. and Ribeiro, A. L. P. and Rice, K. M. and Risch, L. and Schlessinger, D. and Schotten, U. and Schurmann, C. and Shen, X. and Shoemaker, M. B. and Sinagra, G. and Sinner, M. F. and Soliman, E. Z. and Stoll, M. and Strauch, K. and Tarasov, K. and Taylor, K. D. and Tinker, A. and Trompet, S. and Uitterlinden, A. and V{\"o}lker, U. and V{\"o}lzke, H. and Waldenberger, M. and Weng, L. C. and Whitsel, E. A. and Wilson, J. G. and Avery, C. L. and Conen, D. and Correa, A. and Cucca, F. and D{\"o}rr, M. and Gharib, S. A. and Girotto, G. and Grarup, N. and Hayward, C. and Jamshidi, Y. and Jarvelin, M. R. and Jukema, J. W. and K{\"a}{\"a}b, S. and K{\"a}h{\"o}nen, M. and Kanters, J. K. and Kooperberg, C. and Lehtim{\"a}ki, T. and Lima-Costa, M. F. and Liu, Y. and Loos, R. J. F. and Lubitz, S. A. and Mook-Kanamori, D. O. and Morris, A. P. and O{\textquoteright}Connell, J. R. and Olesen, M. S. and Orini, M. and Padmanabhan, S. and Pattaro, C. and Peters, A. and Psaty, B. M. and Rotter, J. I. and Stricker, B. and van der Harst, P. and van Duijn, C. M. and Verweij, N. and Wilson, J. F. and Arking, D. E. and Ramirez, J. and Lambiase, P. D. and Sotoodehnia, N. and Mifsud, B. and Newton-Cheh, C. and Munroe, P. B.}
}
@article {9250,
	title = {{Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis},
	journal = {Genome Biol},
	volume = {23},
	year = {2022},
	month = {Dec},
	pages = {268},
	abstract = {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.\ 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5\% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.\ Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.},
	author = {Kanoni, S. and Graham, S. E. and Wang, Y. and Surakka, I. and Ramdas, S. and Zhu, X. and Clarke, S. L. and Bhatti, K. F. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Zajac, G. J. M. and Wu, K. H. and Ntalla, I. and Hui, Q. and Klarin, D. and Hilliard, A. T. and Wang, Z. and Xue, C. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Hwang, M. Y. and Han, S. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Havulinna, A. S. and Veturi, Y. and Pacheco, J. A. and Rosenthal, E. A. and Lingren, T. and Feng, Q. and Kullo, I. J. and Narita, A. and Takayama, J. and Martin, H. C. and Hunt, K. A. and Trivedi, B. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Rasheed, A. and Hindy, G. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Choudhury, A. and Sengupta, D. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Yousri, N. A. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Bjerregaard, A. A. and Yao, J. and Manichaikul, A. and Hwu, C. M. and Hung, Y. J. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Mauro, P. and Matteo, F. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and llehave, L. T. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Ruotsalainen, S. E. and Daw, E. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Vazquez-Moreno, M. and Feitosa, M. F. and Wojczynski, M. K. and Wang, Z. and Preuss, M. H. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Tsao, N. L. and Verma, A. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Demirkan, A. and Leonard, H. L. and Marten, J. and Frank, M. and Schmidt, B. and Smyth, L. J. and adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Nongmaithem, S. S. and Bayyana, S. and Stringham, H. M. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Prasad, G. and s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Banas, B. and Nardone, G. G. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and nen, N. and Cade, B. E. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Bentley, A. R. and Doumatey, A. P. and Adeyemo, A. A. and Lee, J. Y. and Petersen, E. R. B. and Nielsen, A. A. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and inen, L. 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}
@article {8996,
	title = {{Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project},
	journal = {Stroke},
	volume = {53},
	year = {2022},
	month = {Mar},
	pages = {875{\textendash}885},
	abstract = {Stroke is the leading cause of death and long-term disability worldwide. Previous genome-wide association studies identified 51 loci associated with stroke (mostly ischemic) and its subtypes among predominantly European populations. Using whole-genome sequencing in ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) Program, we aimed to identify novel variants, especially low-frequency or ancestry-specific variants, associated with all stroke, ischemic stroke and its subtypes (large artery, cardioembolic, and small vessel), and hemorrhagic stroke and its subtypes (intracerebral and subarachnoid).\ Whole-genome sequencing data were available for 6833 stroke cases and 27 116 controls, including 22 315 European, 7877 Black, 2616 Hispanic/Latino, 850 Asian, 54 Native American, and 237 other ancestry participants. In TOPMed, we performed single variant association analysis examining 40 million common variants and aggregated association analysis focusing on rare variants. We also combined TOPMed European populations with over 28 000 additional European participants from the UK BioBank genome-wide array data through meta-analysis.\ .\ We represent the first association analysis for stroke and its subtypes using whole-genome sequencing data from ancestrally diverse populations. While our findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds to identify possible low-frequency or ancestry-specific variants, they also highlight the need to increase genome coverage and sample sizes.},
	author = {Hu, Y. and Haessler, J. W. and Manansala, R. and Wiggins, K. L. and Moscati, A. and Beiser, A. and Heard-Costa, N. L. and Sarnowski, C. and Raffield, L. M. and Chung, J. and Marini, S. and Anderson, C. D. and Rosand, J. and Xu, H. and Sun, X. and Kelly, T. N. and Wong, Q. and Lange, L. A. and Rotter, J. I. and Correa, A. and Vasan, R. S. and Seshadri, S. and Rich, S. S. and Do, R. and Loos, R. J. F. and Longstreth, W. T. and Bis, J. C. and Psaty, B. M. and Tirschwell, D. L. and Assimes, T. L. and Silver, B. and Liu, S. and Jackson, R. and Wassertheil-Smoller, S. and Mitchell, B. D. and Fornage, M. and Auer, P. L. and Reiner, A. P. and Kooperberg, C.}
}
